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Wayseen Wang - One of the best experts on this subject based on the ideXlab platform.
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prenatal diagnosis and molecular cytogenetic characterization of de novo Partial Trisomy 12q 12q24 21 qter and Partial monosomy 6q 6q27 qter associated with coarctation of the aorta ventriculomegaly and thickened nuchal fold
Gene, 2013Co-Authors: Yi-yung Chen, Schu-rern Chern, Wayseen Wang, Li-feng Chen, Yu-ting ChenAbstract:We present rapid aneuploidy diagnosis of de novo Partial Trisomy 12q (12q24.21→qter) and Partial monosomy 6q (6q27→qter) by aCGH using uncultured amniocytes in a fetus with coarctation of the aorta, ventriculomegaly and thickened nuchal fold. We discuss the association of TBX3, TBX5 and MED13L gene duplication with coarctation of the aorta, and the association of RNASET2 gene haploinsufficiency with ventriculomegaly in this case.
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Partial monosomy 13q 13q21 32 qter and Partial Trisomy 8p 8p12 pter presenting with anencephaly and increased nuchal translucency array comparative genomic hybridization characterization
Taiwanese Journal of Obstetrics & Gynecology, 2011Co-Authors: Fuu Jen Tsai, Schu-rern Chern, Wayseen Wang, Chen-chi Lee, Chen-wen Pan, Ming Huei LinAbstract:Abstract Objective To present array comparative genomic hybridization (aCGH) characterization of Partial monosomy 13q (13q21.32→qter) and Partial Trisomy 8p (8p12→pter) presenting with anencephaly and increased nuchal translucency (NT). Case Report A 34-year-old primigravid woman was referred to the hospital at 12 weeks of gestation for termination of the pregnancy because of major structural abnormalities of the fetus. Prenatal ultrasound revealed a malformed fetus with anencephaly and an increased NT thickness of 5 mm at 12 weeks of gestation. Cytogenetic analysis of the fetus revealed a derivative chromosome 13. The mother was subsequently found to carry a balanced reciprocal translocation between 8p12 and 13q21. Bacterial artificial chromosome-based aCGH using fetal DNA demonstrated Partial Trisomy 8p and Partial monosomy 13q [arr cgh 8p23.3p12 (RP11-1150M5→RP11-1145H12)×3, 13q21.32q34 (RP11-326B4→RP11-450H16)×1]. Oligonucleotide-based aCGH showed a 36.7-Mb duplication of distal 8p and a 48.4-Mb deletion of distal 13q. The fetal karyotype was 46,XY,der(13) t(8;13)(p12;q21.32)mat. The maternal karyotype was 46,XX,t(8;13)(p12;q21.32). Conclusion The 13q deletion syndrome can be associated with neural tube defects and increased NT in the first trimester. Prenatal sonographic detection of neural tube defects should alert chromosomal abnormalities and prompt cytogenetic investigation, which may lead to the identification of an unexpected parental translocation involving chromosomal segments associated with neural tube development.
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Partial Trisomy 16p 16p12 2 pter and Partial monosomy 22q 22q13 31 qter presenting with fetal ascites and ventriculomegaly prenatal diagnosis and array comparative genomic hybridization characterization
Taiwanese Journal of Obstetrics & Gynecology, 2010Co-Authors: Yining Su, Peichen Wu, Richard Shih Hung Young, Dai Dyi Town, Schu-rern Chern, Wayseen Wang, Fuu Jen TsaiAbstract:Summary Objective To present prenatal diagnosis and array comparative genomic hybridization (aCGH) characterization of Partial Trisomy 16p (16p12.2→pter) and Partial monosomy 22q (22q13.31→qter) presenting with fetal ascites and ventriculomegaly in the second trimester. Case Report A 31-year-old woman, gravida 2, para 1, was referred to the hospital at 20 weeks of gestation because of fetal ascites. Amniocentesis revealed a derivative chromosome 22. Subsequent parental karyotyping revealed that the father carried a balanced reciprocal translocation between 16p12 and 22q13. Bacterial artificial chromosome-based aCGH using amniocyte DNA demonstrated Partial Trisomy 16p and Partial monosomy 22q [arr cgh 16p13.3p12.2 (CTD-3077J14→RP11-650D5)x3, 22q13.31q13.33 (RP1-111J24→CTD-3035C16)x1]. Oligonucleotide-based aCGH showed a 20.9-Mb duplication of distal 16p and an approximate 3.7-Mb deletion of distal 22q. Level II ultrasound revealed fetal ascites and ventriculomegaly. The pregnancy was terminated and a malformed male fetus was delivered with craniofacial dysmorphism and abnormalities of the digits. The fetal karyotype was 46,XY,der(22)t(16;22)(p12.2;q13.31)pat. The paternal karyotype was 46,XY,t(16;22)(p12.2;q13.31). Conclusion Partial Trisomy 16p can be associated with fetal ascites and ventriculomegaly in the second trimester. Prenatal sonographic detection of fetal ascites in association with ventriculomegaly should alert chromosomal abnormalities and prompt cytogenetic investigation, which may lead to the identification of an unexpected parental translocation involving chromosomal segments associated with cerebral and vascular abnormalities.
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prenatal diagnosis of Partial Trisomy 3p 3p21 pter and Partial monosomy 11q 11q23 qter associated with abnormal sonographic findings of holoprosencephaly orofacial clefts pyelectasis and a unilateral duplex renal system
Journal of the Formosan Medical Association, 2008Co-Authors: Chihping Chen, Wayseen Wang, Fuu Jen Tsai, Tzu-hao Wang, Chyichyang Lin, Lie Jiau HsiehAbstract:Patients with Partial Trisomy 3p seldom present major dysmorphic features, and holoprosencephaly occurs in only 10% of the cases with Partial Trisomy 3p. It has been suggested that multiple genetic hits or environmental exposures are required for the clinical expression of holoprosencephaly. At 16 weeks of gestation, prenatal sonography identified a fetus with holoprosencephaly, orofacial clefts, pyelectasis, and a unilateral duplex renal system. Amniocentesis revealed the karyotype of 46, XX, der(11)t(3;11)(p21;q23)pat with Partial Trisomy 3p (3p21→pter) and Partial monosomy 11q (11q23→qter). The pregnancy was subsequently terminated. Postnatally, the proband showed hypotelorism, a depressed nasal bridge, orofacial clefts and holoprosencephaly-premaxillary agenesis. The present case provides evidence that Partial Trisomy 3p/monosomy 11q can be a genetic cause of holoprosencephaly and del(11) (q23→qter) is associated with a duplex renal system.
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Prenatal diagnosis and molecular cytogenetic analysis of Partial monosomy 10q (10q25.3→qter) and Partial Trisomy 18q (18q23→qter) in a fetus associated with cystic hygroma and ambiguous genitalia
Prenatal diagnosis, 2005Co-Authors: Schu-rern Chern, Dai Dyi Town, Chen-chi Lee, Tzu-hao Wang, Ding-wei Hsueh, Wayseen WangAbstract:Objectives To present the prenatal diagnosis and molecular cytogenetic analysis of a fetus with nuchal cystic hygroma and ambiguous genitalia. Case and Methods Amniocentesis was performed at 16 weeks' gestation because of the abnormal fetal sonographic finding of a large septated nuchal cystic hygroma. Genetic amniocentesis revealed a terminal deletion in the long arm of chromosome 10. The paternal karyotype was subsequently found to be 46,XY,t(10;18)(q25.3;q23). The maternal karyotype was normal. The pregnancy was terminated. A hydropic fetus was delivered with a septated nuchal cystic hygroma and ambiguous genitalia. Fluorescence in situ hybridization (FISH), microarray-based comparative genomic hybridization (CGH), and polymorphic DNA markers were used to investigate the involved chromosomal segments. Results FISH study showed absence of the 10q telomeric probe and presence of the 18q telomeric probe in the derivative chromosome 10. Microarray-based CGH analysis showed loss of distal 10q and gain of distal 18q. Polymorphic DNA marker analysis determined the breakpoints. The fetal karyotype was 46,XY,der(10)t(10;18)(q25.3;q23)pat. The chromosome aberration resulted in Partial monosomy 10q (10q25.3qter) and Partial Trisomy 18q (18q23qter). Conclusions The present case provides evidence that Partial monosomy 10q (10q25.3qter) with Partial Trisomy 18q (18q23qter) can be a genetic cause of fetal cystic hygroma and ambiguous genitalia. Cytogenetic analysis for prenatally detected structural abnormalities may detect unexpected inherited chromosome aberrations. Copyright © 2005 John Wiley & Sons, Ltd.
Chen-chi Lee - One of the best experts on this subject based on the ideXlab platform.
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Partial monosomy 13q 13q21 32 qter and Partial Trisomy 8p 8p12 pter presenting with anencephaly and increased nuchal translucency array comparative genomic hybridization characterization
Taiwanese Journal of Obstetrics & Gynecology, 2011Co-Authors: Fuu Jen Tsai, Schu-rern Chern, Wayseen Wang, Chen-chi Lee, Chen-wen Pan, Ming Huei LinAbstract:Abstract Objective To present array comparative genomic hybridization (aCGH) characterization of Partial monosomy 13q (13q21.32→qter) and Partial Trisomy 8p (8p12→pter) presenting with anencephaly and increased nuchal translucency (NT). Case Report A 34-year-old primigravid woman was referred to the hospital at 12 weeks of gestation for termination of the pregnancy because of major structural abnormalities of the fetus. Prenatal ultrasound revealed a malformed fetus with anencephaly and an increased NT thickness of 5 mm at 12 weeks of gestation. Cytogenetic analysis of the fetus revealed a derivative chromosome 13. The mother was subsequently found to carry a balanced reciprocal translocation between 8p12 and 13q21. Bacterial artificial chromosome-based aCGH using fetal DNA demonstrated Partial Trisomy 8p and Partial monosomy 13q [arr cgh 8p23.3p12 (RP11-1150M5→RP11-1145H12)×3, 13q21.32q34 (RP11-326B4→RP11-450H16)×1]. Oligonucleotide-based aCGH showed a 36.7-Mb duplication of distal 8p and a 48.4-Mb deletion of distal 13q. The fetal karyotype was 46,XY,der(13) t(8;13)(p12;q21.32)mat. The maternal karyotype was 46,XX,t(8;13)(p12;q21.32). Conclusion The 13q deletion syndrome can be associated with neural tube defects and increased NT in the first trimester. Prenatal sonographic detection of neural tube defects should alert chromosomal abnormalities and prompt cytogenetic investigation, which may lead to the identification of an unexpected parental translocation involving chromosomal segments associated with neural tube development.
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Prenatal diagnosis and molecular cytogenetic analysis of Partial monosomy 10q (10q25.3→qter) and Partial Trisomy 18q (18q23→qter) in a fetus associated with cystic hygroma and ambiguous genitalia
Prenatal diagnosis, 2005Co-Authors: Schu-rern Chern, Dai Dyi Town, Chen-chi Lee, Tzu-hao Wang, Ding-wei Hsueh, Wayseen WangAbstract:Objectives To present the prenatal diagnosis and molecular cytogenetic analysis of a fetus with nuchal cystic hygroma and ambiguous genitalia. Case and Methods Amniocentesis was performed at 16 weeks' gestation because of the abnormal fetal sonographic finding of a large septated nuchal cystic hygroma. Genetic amniocentesis revealed a terminal deletion in the long arm of chromosome 10. The paternal karyotype was subsequently found to be 46,XY,t(10;18)(q25.3;q23). The maternal karyotype was normal. The pregnancy was terminated. A hydropic fetus was delivered with a septated nuchal cystic hygroma and ambiguous genitalia. Fluorescence in situ hybridization (FISH), microarray-based comparative genomic hybridization (CGH), and polymorphic DNA markers were used to investigate the involved chromosomal segments. Results FISH study showed absence of the 10q telomeric probe and presence of the 18q telomeric probe in the derivative chromosome 10. Microarray-based CGH analysis showed loss of distal 10q and gain of distal 18q. Polymorphic DNA marker analysis determined the breakpoints. The fetal karyotype was 46,XY,der(10)t(10;18)(q25.3;q23)pat. The chromosome aberration resulted in Partial monosomy 10q (10q25.3qter) and Partial Trisomy 18q (18q23qter). Conclusions The present case provides evidence that Partial monosomy 10q (10q25.3qter) with Partial Trisomy 18q (18q23qter) can be a genetic cause of fetal cystic hygroma and ambiguous genitalia. Cytogenetic analysis for prenatally detected structural abnormalities may detect unexpected inherited chromosome aberrations. Copyright © 2005 John Wiley & Sons, Ltd.
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prenatal diagnosis of the dandy walker malformation and ventriculomegaly associated with Partial Trisomy 9p and distal 12p deletion
Prenatal Diagnosis, 2002Co-Authors: Chihping Chen, Dai Dyi Town, Wayseen Wang, Chen-chi Lee, Chen-wen Pan, Tungyao Chang, Jinchung Shih, Shuanpei Lin, Chenju Lin, Chinyuan TzenAbstract:Objectives To present the prenatal diagnosis and perinatal findings of Partial Trisomy 9p and distal 12p deletion. Methods and results Amniocentesis was performed at 17 gestational weeks due to a balanced reciprocal translocation t(9;12)(p11.2;p13.3) in the mother. The father's karyotype was normal. The family had a 5-year-old daughter with a Dandy-Walker malformation and a Trisomy 9p syndrome. Cytogenetic analysis of the cultured amniotic fluid cells revealed a 46,XY,der(12)t(9;12)(p11.2;p13.3)mat karyotype with Partial monosomy 12p(12pter→p13.3) and Partial Trisomy 9p(9pter→p11.2). Sonographic examination of the fetal brain and skull showed bilateral ventriculomegaly, brachycephaly and a Dandy-Walker malformation with an enlarged cisterna magna and absence of the cerebellar vermis. The pregnancy was terminated subsequently. At autopsy, the proband manifested agenesis of the cerebellar vermis and a typical Trisomy 9p phenotype. Conclusion Fetuses with Partial Trisomy 9p(9pter→p11.2) may present a Dandy-Walker malformation and ventriculomegaly on prenatal ultrasound in the second trimester. A dosage effect of genes located on 9pter→p11.2 may be associated with the abnormal development of the central nervous system in patients with Partial or complete Trisomy 9. Copyright © 2002 John Wiley & Sons, Ltd.
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prenatal diagnosis of Partial Trisomy 3p 3p23 pter and monosomy 7q 7q36 qter in a fetus with microcephaly alobar holoprosencephaly and cyclopia
Prenatal Diagnosis, 1999Co-Authors: Wayseen Wang, Chen-chi Lee, Chihping Chen, Koenraad Devriendt, Wenlin Chen, Taoyeuan WangAbstract:We report the prenatal diagnosis of Partial Trisomy 3p(3p23pter) and monosomy 7q(7q36qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia. A 26-year-old primigravida woman was referred for genetic counselling at 23 gestational weeks due to sonographic findings of intra-uterine growth retardation and cranio-facial abnormalities. Level II ultrasonograms further demonstrated alobar holoprosencephaly, a proboscis above the eye and a single median orbit consistent with cyclopia. Genetic analysis and fluorescence in situ hybridization on cells obtained from amniocentesis showed distal 3p Trisomy (3p23pter) and 7q36 deletion, 46,XX,der(7)t(3;7)(p23;q36), resulting from a paternal t(3;7) reciprocal translocation. The pregnancy was terminated. Autopsy further confirmed the presence of arrhinencephaly, agenesis of the corpus callosum and a single ventricle of the brain. The phenotype of this antenatally diagnosed case is compared with those observed in 10 previously reported cases with simultaneous occurrence of Partial Trisomy 3p and terminal deletion 7q. All cases are associated with severe forms of holoprosencephaly and facial dysmorphism. This delineates an autosomal imbalance syndrome or a dosage effect involving duplication of distal 3p/deficiency of terminal 7q and dysmorphogenesis of the forebrain and mid-face. Copyright © 1999 John Wiley & Sons, Ltd.
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Partial Trisomy 8q and Partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, uinary tract anomalies, congenital heart defect and kyphoscoliosis
Prenatal diagnosis, 1998Co-Authors: Chen-chi Lee, Chen-wen Pan, Twan-yin Kir, Be-fong ChenAbstract:We describe perinatal findings in a female fetus with Partial Trisomy 8q(8q24.1-->8qter) and Partial monosomy 15q(15q26.1-->15qter) resulting from a paternal t(8;15) reciprocal translocation. Prenatal sonographic examination showed intra-uterine growth retardation, bilateral ventriculomegaly, cardiomegaly with arrhythmia, anhydramnios, and absent kidney and urinary bladder images. The pregnancy was terminated at 28 weeks of gestation. At birth, the infant manifested typical dysmorphic features of Partial Trisomy 8q. Necropsy further revealed hydrocephalus, congenital diaphragmatic hernia, ventricular septal defect, a horseshoe kidney with renal hypoplasia, and kyphoscoliosis. Our case shows that the coexistence of Partial Trisomy 8q24.1-->8qter and Partial monosomy 15q26.1-->15qter are more detrimental than either defect alone and can result in a complex of major malformations. Prenatal ultrasound examination and cytogenetic assessment should be offered in subsequent pregnancies.
C. S. Paththinige - One of the best experts on this subject based on the ideXlab platform.
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a child with multiple congenital anomalies due to Partial Trisomy 7q22 1 qter resulting from a maternally inherited balanced translocation a case report and review of literature
BMC Medical Genomics, 2018Co-Authors: C. S. Paththinige, N. D. Sirisena, U. G. I. U. Kariyawasam, R. C. Ediriweera, Paul Kruszka, Max Muenke, Vajira H W DissanayakeAbstract:Parental balanced reciprocal translocations can result in Partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytogenetic characterization of a 2 years and 4 months old female child with Partial Trisomy 7q22 → qter. This is the first such reported case resulting from a parental balanced translocation involving the long arms of chromosomes 7 and 14. The phenotype of the proband was compared with that of previously reported cases of Trisomy 7q21 → qter or 7q22 → qter resulting from parental balanced translocations. The proband was born pre-term to a 34-year-old mother with a history of two first trimester miscarriages and an early infant death. She was referred at the age of 8 months for genetic evaluation due to prenatal and postnatal growth retardation, developmental delay and multiple congenital anomalies. On clinical evaluation, she had craniofacial dysmorphic features such as scaphocephaly, large anterior fontanelle with open posterior fontanelle, prominent occiput, triangular face, high forehead, hypertelorism, down slanting eyes, flat nasal bridge, small nose, low set ears, micro-retrognathia, high arched palate and short neck. Cranial computerized tomography scan showed lateral ventriculomegaly with features of early cerebral atrophy. Conventional cytogenetic analysis showed the karyotype 46,XX,der(14)t(7;14)(q22;q32)mat in the proband due to an unbalanced segregation of a maternal balanced translocation t(7;14)(q22;q32). Fluorescence in-situ hybridization analysis confirmed the Partial Trisomy 7q22 → qter in the proband with a minimal loss of genetic material on chromosome 14. Single nucleotide polymorphism array further confirmed the duplication on chromosome 7q22.1 → qter and a small terminal deletion on chromosome 14q32.3 → qter. We report the longest-surviving child with Trisomy 7q22 → qter due to a parental balanced translocation between chromosomes 7 and 14. Clinical features observed in the proband were consistent with the consensus phenotype of Partial Trisomy 7q22 → qter reported in the scientific literature. Early diagnosis of these patients using molecular cytogenetic techniques is important for establishing the precise diagnosis and for making decisions pertaining to the prognostication and management of affected individuals.
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Partial Trisomy 16q21 qter due to an unbalanced segregation of a maternally inherited balanced translocation 46 xx t 15 16 p13 q21 a case report and review of literature
BMC Pediatrics, 2018Co-Authors: C. S. Paththinige, N. D. Sirisena, U. G. I. U. Kariyawasam, Rupesh Mishra, S Nanayakkara, Vajira H W DissanayakeAbstract:Partial Trisomy is often the result of an unbalanced segregation of a parental balanced translocation. Partial Trisomy16q is characterized by a common, yet non-specific group of craniofacial dysmorphic features, and systemic malformations with limited post-natal survival. Most of the cases of Partial Trisomy 16q described in the scientific literature have reported only one, or less frequently two cardiac defects in the affected babies. Herein, we report a case of Partial Trisomy 16q21➔qter with multiple and complex cardiac defects that have not previously been reported in association with this condition. We report the phenotypic and cytogenetic features of a Sri Lankan female infant with Partial Trisomy 16q21➔qter. The baby had a triangular face with downslanting eyes, low set ears and a cleft palate. Systemic abnormalities included multiple cardiac defects, namely double outlet right ventricle, ostium secundum atrial septal defect, mild pulmonary stenosis, small patent ductus arteriosus, and bilateral superior vena cavae. An anteriorly placed anus was also observed. The proband was trisomic for 16q21➔qter chromosomal region with a karyotype, 46,XX,der(15)t(15;16)(p13;q21)mat. The chromosomal anomaly was the result of an unbalanced segregation of a maternal balanced translocation; 46,XX,t(15;16)(p13;q21). Partial Trisomy 16q was established by fluorescence in-situ hybridization analysis. The craniofacial dysmorphic features and the presence of cardiac and anorectal malformation in the proband are consistent with the phenotypic spectrum of Partial Trisomy 16q reported in the scientific literature. More proximal breakpoints in chromosome 16q are known to be associated with multiple cardiac abnormalities and poor long-term survival of affected cases. This report presents a unique case with multiple, complex cardiac defects that have not previously been described in association with a distal breakpoint in 16q. These findings have important diagnostic and prognostic implications.
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A child with multiple congenital anomalies due to Partial Trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature
BMC, 2018Co-Authors: C. S. Paththinige, N. D. Sirisena, U. G. I. U. Kariyawasam, R. C. Ediriweera, Paul Kruszka, Max Muenke, V. H. W. DissanayakeAbstract:Abstract Background Parental balanced reciprocal translocations can result in Partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytogenetic characterization of a 2 years and 4 months old female child with Partial Trisomy 7q22 → qter. This is the first such reported case resulting from a parental balanced translocation involving the long arms of chromosomes 7 and 14. The phenotype of the proband was compared with that of previously reported cases of Trisomy 7q21 → qter or 7q22 → qter resulting from parental balanced translocations. Case presentation The proband was born pre-term to a 34-year-old mother with a history of two first trimester miscarriages and an early infant death. She was referred at the age of 8 months for genetic evaluation due to prenatal and postnatal growth retardation, developmental delay and multiple congenital anomalies. On clinical evaluation, she had craniofacial dysmorphic features such as scaphocephaly, large anterior fontanelle with open posterior fontanelle, prominent occiput, triangular face, high forehead, hypertelorism, down slanting eyes, flat nasal bridge, small nose, low set ears, micro-retrognathia, high arched palate and short neck. Cranial computerized tomography scan showed lateral ventriculomegaly with features of early cerebral atrophy. Conventional cytogenetic analysis showed the karyotype 46,XX,der(14)t(7;14)(q22;q32)mat in the proband due to an unbalanced segregation of a maternal balanced translocation t(7;14)(q22;q32). Fluorescence in-situ hybridization analysis confirmed the Partial Trisomy 7q22 → qter in the proband with a minimal loss of genetic material on chromosome 14. Single nucleotide polymorphism array further confirmed the duplication on chromosome 7q22.1 → qter and a small terminal deletion on chromosome 14q32.3 → qter. Conclusion We report the longest-surviving child with Trisomy 7q22 → qter due to a parental balanced translocation between chromosomes 7 and 14. Clinical features observed in the proband were consistent with the consensus phenotype of Partial Trisomy 7q22 → qter reported in the scientific literature. Early diagnosis of these patients using molecular cytogenetic techniques is important for establishing the precise diagnosis and for making decisions pertaining to the prognostication and management of affected individuals
Thomas Liehr - One of the best experts on this subject based on the ideXlab platform.
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prenatal diagnosis of proximal Partial Trisomy 1q confirmed by comparative genomic hybridization array molecular cytogenetic analysis fetal pathology and review of the literature
Birth Defects Research Part A-clinical and Molecular Teratology, 2014Co-Authors: Stavros Sifakis, Thomas Liehr, Makarios Eleftheriades, Dimitra Kappou, R Murru, Anastasia E Konstantinidou, Sandro Orru, Monika Ziegler, Emmanouil Manolakos, Ioannis PapoulidisAbstract:BACKGROUND Partial Trisomy of the long arm of chromosome 1 (1q) is an exceptionally rare chromosomal abnormality and most of the prenatally diagnosed cases are associated with either complete (q11-qter) or large (q21-qter) duplications with pre- or perinatal demise of all reported cases. The most common sonographic findings associated with this karyotype abnormality include ventriculomegaly, increased nuchal translucency or nuchal fold, renal and cardiac abnormalities, craniofacial dysmorphism, and limb deformities. However, there is a wide spectrum of clinical manifestations due to the great variability in the extent of the duplication size and the possible contribution of additional genetic rearrangements in the final phenotype. CASE REPORT We report on a female fetus with sole Partial Trisomy 1q presenting with multiple structural malformations in the second trimester scan. Standard karyotyping demonstrated a large duplication on the proximal end of chromosome 1 [46,XX,dup(1)(pterq31::q31q12::q31qter)] and further application of comparative genomic hybridization array confirmed the diagnosis and offered a precise characterization of the genetic defect. CONCLUSION A fetus with nonmosaic Partial Trisomy 1q that was prenatally diagnosed upon multiple abnormal ultrasound findings is presented. A detailed review of the currently available literature on the prenatal diagnostic approach of Partial Trisomy 1q in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided. The use of novel molecular techniques such comparative genomic hybridization array could shed further light on the correlation between the genes identified in the chromosomal region of interest and the resultant phenotype. Birth Defects Research (Part A) 100:284–293, 2014. © 2014 Wiley Periodicals, Inc.
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a patient with Partial Trisomy 21 and 7q deletion expresses mild down syndrome phenotype
Gene, 2014Co-Authors: Ioannis Papoulidis, Thomas Liehr, Emmanouil Manolakos, Elena Papageorgiou, Elisavet Siomou, Eirini Oikonomidou, Loretta Thomaidis, Annalisa Vetro, Orsetta Zuffardi, Papadopoulos VassilisAbstract:Abstract Backround Down syndrome (DS) is the most common aneuploidy in live-born individuals and it is well recognized with various phenotypic expressions. Although an extra chromosome 21 is the genetic cause for DS, specific phenotypic features may result from the duplication of smaller regions of the chromosome and more studies need to define genotypic and phenotypic correlations. Case report We report on a 26 year old male with Partial Trisomy 21 presenting mild clinical symptoms relative to DS including borderline intellectual disability. In particular, the face and the presence of hypotonia and keratoconus were suggestive for the DS although the condition remained unnoticed until his adult age array comparative genomic hybridization (aCGH) revealed a 10.1 Mb duplication in 21q22.13q22.3 and a small deletion of 2.2 Mb on chromosomal band 7q36 arising from a paternal translocation t(7;21). The 21q duplication encompasses the gene DYRK1. Conclusion Our data support the evidence of specific regions on distal 21q whose duplication results in phenotypes recalling the typical DS face. Although the duplication region contains DYRK1, which has previously been implicated in the causation of DS, our patient has a borderline IQ confirming that their duplication is not sufficient to cause the full DS phenotype.
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Partial Trisomy 9p22 to 9p24 2 in combination with Partial monosomy 9pter in a syrian girl
Molecular Cytogenetics, 2010Co-Authors: Walid Al Achkar, Abdulsamad Wafa, Faten Moassass, Thomas LiehrAbstract:Background Partial Trisomy of the short arm of chromosome 9 is among the most common autosomal structural chromosomal anomalies leading to chromosomal imbalance in human. Clinical characteristics are craniofacial dysmorphism including hypertelorism, prominent nose, deep-set eyes, and down-slanting palpebral fissures. The degree of clinical severity in Partial Trisomy 9p roughly correlates with the size of the chromosomal imbalance. Therefore, breakpoints as well as clinical findings need to be precisely defined for differential diagnosis.
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a rare case of chronic myeloid leukemia with secondary chromosomal changes including Partial Trisomy 17q21 to 17qter and Partial monosomy of 16p13 3
Molecular Cytogenetics, 2010Co-Authors: Walid Al Achkar, Abdulsamad Wafa, Faten Moassass, Hasmik Mkrtchyan, Thomas LiehrAbstract:Background: The so-called Philadelphia (Ph) chromosome is present in almost all cases with chronic myeloid leukemia (CML). Around 5-10% of these patients show complex translocations involving other chromosomes in addition to and/or besides chromosomes 9 and 22. As nowadays most CML cases are treated with Imatinib, variant rearrangements have in general no specific prognostic significance, though events of therapy resistance remain to be studied. Results: Here we report a Ph chromosome positive patient with hematological typical chronic phase CML. Untypically, an unbalanced complex rearrangement involving chromosomes 16 and 17 leading to a deletion of 16pter and Partial Trisomy of 17q21 to 17qter, was identified besides a Trisomy 8 and an additional Ph chromosome in a part of malignant cells.
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distal Partial Trisomy 1q report of two cases and a review of the literature
Prenatal Diagnosis, 2007Co-Authors: Gulen Eda Utine, Dilek Aktas, Yasemin Alanay, Safak Gucer, Ergul Tuncbilek, Kristin Mrasek, Thomas LiehrAbstract:We report on two cases with Partial Trisomy 1q syndrome. One case was a mid-trimester fetus with multiple malformations that was prenatally diagnosed with a de novo distal Partial Trisomy 1q. Prenatal ultrasound at 24th gestational week demonstrated the presence of cleft lip and palate, increased biparietal diameter and decreased abdominal circumference. Cytogenetic analysis (GTG banding) and subsequent fluorescence in situ hybridization (FISH) using whole chromosome paint 1 and multicolor banding (MCB) demonstrated an aberrant karyotype 46,XY,dup(1)(q31q43∼44). The second case was a newborn male infant with multiple congenital malformations. He had a derivative chromosome 18 as a result of a maternal insertion involving chromosomes 1 and 18. Further analyses including MCB showed his karyotype as 46,XY,ins(18;1)(q22;q23q31.1∼32). The present cases and a review of the literature suggest that Partial Trisomy of the long arm of chromosome 1 is a distinct clinical entity. Copyright © 2007 John Wiley & Sons, Ltd.
Jacoba Reiss - One of the best experts on this subject based on the ideXlab platform.
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Partial Trisomy 3p syndrome
Clinical Genetics, 2008Co-Authors: Jacoba Reiss, Lesj Sheffield, G R SutherlandAbstract:Two cousins with an unbalanced chromosome translocation (Partial Trisomy 3p) are described. Both children have a clinically recognizable syndrome of square facies with prominent cheeks, narrow bitemporal regions, psychomotor retardation and congential heart disease. Extended family studies showed one other individual proven to have Partial Trisomy 3p karyotype, two retarded individuals with congenital heart disease who probably had it, and 14 balanced carriers of the translocation t(l;3)(q43;p21). This report confirms the characteristic clinical appearance of affected individuals and emphasizes the frequency in which congenital heart disease is the presenting feature of Partial Trisomy 3p. An additional 22 cases of Partial 3p Trisomy are reviewed.