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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 of a 1.651-Mb 19q13.42-q13.43 microdeletion in a fetus with micrognathia and bilateral Pyelectasis on prenatal ultrasound.
Taiwanese journal of obstetrics & gynecology, 2020Co-Authors: Chih-ping Chen, Schu-rern Chern, Chin-yuan Hsu, Shin-wen Chen, Wayseen WangAbstract:Abstract Objective We present prenatal diagnosis of a de novo 1.651-Mb 19q13.42-q13.43 microdeletion in a fetus with micrognathia and bilateral Pyelectasis on prenatal ultrasound. Case report A 32-year-old woman underwent amniocentesis at 28 weeks of gestation because of fetal micrognathia and bilateral Pyelectasis on prenatal ultrasound. Amniocentesis revealed a karyotype of 46,XX. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr 19q13.42q13.43 (55,028,722–56,680,564) × 1.0 [GRCh37 (hg19)] or a 1.651-Mb microdeletion encompassing 44 Online Mendelian Inheritance in Man (OMIM) genes including NLRP7, GP6, TNNT1, TNNI3 and DNAAF3. The parents did not have such a deletion and decided to continue the pregnancy. At 37 weeks of gestation, a 2560-g female baby was delivered by cesarean section because of oligohydramnios and decreased fetal movements. The baby manifested cleft palate, micrognathia and retrognathia at birth. She was doing well at age three months. Her body weight was 5.3 Kg (15th–25th centile), and body length was 59.2 cm (25th-50th centile). Renal sonogram showed bilateral mild pelvic dilation. She manifested no psychomotor retardation and no other internal organ abnormalities during pediatric follow-ups. Conclusion A 19q13.42-q13.43 microdeletion can be associated with micrognathia, retrognathia, cleft palate and bilateral Pyelectasis at birth.
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prenatal diagnosis of 22q11 2 deletion syndrome associated with right aortic arch left ductus arteriosus cardiomegaly and pericardial effusion
Taiwanese Journal of Obstetrics & Gynecology, 2016Co-Authors: Yen-ni Chen, Wayseen Wang, Chih-ping Chen, Tungyao Chang, Chien-wen Yang, Liangkai WangAbstract:Abstract Objective To report prenatal diagnosis of 22q11.2 deletion syndrome with right aortic arch (RAA), left ductus arteriosus, cardiomegaly, and pericardial effusion in the fetus. Case report A 35-year-old woman, gravida 2, para 1, was referred to the hospital at 31 weeks of gestation because of abnormal ultrasound findings and whole-genome array comparative genomic hybridization report. G-banding chromosome analysis revealed a karyotype of 46,XX. Level II ultrasound at 22 weeks of gestation revealed RAA with the presence of the aortic arch on the right side of trachea at three vessels and trachea view, left ductus arteriosus, and mild right side Pyelectasis. Cardiomegaly and pericardial effusion were also found 2 months later. Array comparative genomic hybridization detected a 2.743-Mb deletion at 22q11.2 region. Multiplex ligation-dependent amplification detected deletion in the DiGeorge syndrome critical region of chromosome 22 low copy number repeat 22-A–C. Metaphase fluorescence in situ hybridization on lymphocyte in cord blood confirmed deletion in 22q11.2 region. Conclusion Chromosome abnormalities have been found in patients with RAA. Prenatal diagnosis of RAA with or without intracardiac or extracardiac anomalies should include a diagnosis of 22q11.2 deletion syndrome.
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rapid positive confirmation of mosaicism for a small supernumerary marker chromosome as r 8 by interphase fluorescence in situ hybridization quantitative fluorescent polymerase chain reaction and array comparative genomic hybridization on uncultured
Taiwanese Journal of Obstetrics & Gynecology, 2012Co-Authors: Shuenndyh Chang, Schu-rern Chern, Wayseen Wang, Ming Chen, Chen-wen Pan, Yuting Chen, Wen Lin Chen, Meng-shan LeeAbstract:Abstract Objective This study aimed at presenting prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 8 by fluorescence in situ hybridization (FISH), quantitative fluorescent polymerase chain reaction (QF-PCR), and array comparative genomic hybridization (aCGH) on uncultured amniocytes. Materials, Methods, and Results A 32-year-old woman underwent amniocentesis at 19 weeks of gestation because of fetal Pyelectasis. Amniocentesis revealed a de novo ring-shaped sSMC in two of 21 colonies of cultured amniocytes. Repeated amniocentesis at 22 weeks of gestation revealed a karyotype of 47,XY,+mar[8]/46,XY[32] in cultured amniocytes. Spectral karyotyping and FISH confirmed that the sSMC was derived from chromosome 8. She underwent a third amniocentesis at 26 weeks of gestation. Oligonucleotide-based aCGH analysis on uncultured amniocytes demonstrated a 43 Mb genomic gain in chromosome 8 encompassing 8p22→q12.1. Polymorphic DNA marker analysis of the uncultured amniocytes revealed a maternal origin of the sSMC and excluded uniparental disomy 8. Interphase FISH analysis showed three D8Z2 signals in 8/40 (20%) of uncultured amniocytes. The cultured amniocytes had a karyotype of 47,XY,+r(8)(p22q12.1)[3]/46,XY[37]. The pregnancy was carried to term, and an apparently normal baby, weighing 3300 g, was delivered with mild hydronephrosis but no other phenotypic abnormalities. The cord blood was found to have a karyotype of 47,XY,+r(8)(p22q12.1)[2]/46,XY[38]. Conclusion Prenatal diagnosis of fetal Pyelectasis should alert obstetricians of chromosome aberration. Interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes are helpful in rapid positive confirmation of an sSMC detected at amniocentesis.
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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: Chih-ping Chen, Wayseen Wang, 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 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
Elsevier, 2008Co-Authors: Chih-ping Chen, Tzu-hao Wang, Chyichyang Lin, Lie Jiau Hsieh, Fuu-jen Tsai, Wayseen WangAbstract: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
Chih-ping Chen - One of the best experts on this subject based on the ideXlab platform.
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Prenatal diagnosis of a 1.651-Mb 19q13.42-q13.43 microdeletion in a fetus with micrognathia and bilateral Pyelectasis on prenatal ultrasound.
Taiwanese journal of obstetrics & gynecology, 2020Co-Authors: Chih-ping Chen, Schu-rern Chern, Chin-yuan Hsu, Shin-wen Chen, Wayseen WangAbstract:Abstract Objective We present prenatal diagnosis of a de novo 1.651-Mb 19q13.42-q13.43 microdeletion in a fetus with micrognathia and bilateral Pyelectasis on prenatal ultrasound. Case report A 32-year-old woman underwent amniocentesis at 28 weeks of gestation because of fetal micrognathia and bilateral Pyelectasis on prenatal ultrasound. Amniocentesis revealed a karyotype of 46,XX. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr 19q13.42q13.43 (55,028,722–56,680,564) × 1.0 [GRCh37 (hg19)] or a 1.651-Mb microdeletion encompassing 44 Online Mendelian Inheritance in Man (OMIM) genes including NLRP7, GP6, TNNT1, TNNI3 and DNAAF3. The parents did not have such a deletion and decided to continue the pregnancy. At 37 weeks of gestation, a 2560-g female baby was delivered by cesarean section because of oligohydramnios and decreased fetal movements. The baby manifested cleft palate, micrognathia and retrognathia at birth. She was doing well at age three months. Her body weight was 5.3 Kg (15th–25th centile), and body length was 59.2 cm (25th-50th centile). Renal sonogram showed bilateral mild pelvic dilation. She manifested no psychomotor retardation and no other internal organ abnormalities during pediatric follow-ups. Conclusion A 19q13.42-q13.43 microdeletion can be associated with micrognathia, retrognathia, cleft palate and bilateral Pyelectasis at birth.
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prenatal diagnosis of 22q11 2 deletion syndrome associated with right aortic arch left ductus arteriosus cardiomegaly and pericardial effusion
Taiwanese Journal of Obstetrics & Gynecology, 2016Co-Authors: Yen-ni Chen, Wayseen Wang, Chih-ping Chen, Tungyao Chang, Chien-wen Yang, Liangkai WangAbstract:Abstract Objective To report prenatal diagnosis of 22q11.2 deletion syndrome with right aortic arch (RAA), left ductus arteriosus, cardiomegaly, and pericardial effusion in the fetus. Case report A 35-year-old woman, gravida 2, para 1, was referred to the hospital at 31 weeks of gestation because of abnormal ultrasound findings and whole-genome array comparative genomic hybridization report. G-banding chromosome analysis revealed a karyotype of 46,XX. Level II ultrasound at 22 weeks of gestation revealed RAA with the presence of the aortic arch on the right side of trachea at three vessels and trachea view, left ductus arteriosus, and mild right side Pyelectasis. Cardiomegaly and pericardial effusion were also found 2 months later. Array comparative genomic hybridization detected a 2.743-Mb deletion at 22q11.2 region. Multiplex ligation-dependent amplification detected deletion in the DiGeorge syndrome critical region of chromosome 22 low copy number repeat 22-A–C. Metaphase fluorescence in situ hybridization on lymphocyte in cord blood confirmed deletion in 22q11.2 region. Conclusion Chromosome abnormalities have been found in patients with RAA. Prenatal diagnosis of RAA with or without intracardiac or extracardiac anomalies should include a diagnosis of 22q11.2 deletion syndrome.
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Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2–q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome
Elsevier, 2014Co-Authors: Chih-ping Chen, Schu-rern Chern, Chen-ju Lin, Yu-peng Liu, Yu-ling Kuo, Yen-ni Chen, Dai-dyi Town, Li-feng Chen, Chien-wen YangAbstract:Objective: To present prenatal diagnosis and molecular cytogenetic characterization of a de novo 5q35 microdeletion associated with Sotos syndrome. Methods: This was the first pregnancy of a 29-year-old woman. The pregnancy was uneventful until 27 weeks of gestation when left ventriculomegaly was first noted. At 31 weeks of gestation, polyhydramnios, macrocephaly, and ventriculomegaly were prominent on ultrasound, and left Pyelectasis and bilateral ventriculomegaly were diagnosed on magnetic resonance imaging. The woman underwent amniocentesis and cordocentesis at 32 weeks of gestation. Conventional cytogenetic analysis was performed using cultured amniocytes and cord blood lymphocytes. Array comparative genomic hybridization (aCGH) was performed on uncultured amniocytes and parental blood. Metaphase fluorescence in situ hybridization (FISH) was performed on cultured lymphocytes. Results: Conventional cytogenetics revealed a karyotype of 46,XX. aCGH on uncultured amniocytes revealed a de novo 1.07-Mb microdeletion at 5q35.2–q35.3 encompassing NSD1. Metaphase FISH analysis on the cord blood lymphocytes confirmed the deletion at 5q35.2. The postnatal phenotype was consistent with Sotos syndrome. Conclusion: Fetuses with Sotos syndrome may present macrocephaly, polyhydramnios, ventriculomegaly, and Pyelectasis in the third trimester. aCGH and metaphase FISH are useful for rapid diagnosis of 5q35 microdeletion associated with Sotos syndrome
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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: Chih-ping Chen, Wayseen Wang, 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 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
Elsevier, 2008Co-Authors: Chih-ping Chen, Tzu-hao Wang, Chyichyang Lin, Lie Jiau Hsieh, Fuu-jen Tsai, Wayseen WangAbstract: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
Tzu-hao Wang - One of the best experts on this subject based on the ideXlab platform.
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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: Chih-ping Chen, Wayseen Wang, 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 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
Elsevier, 2008Co-Authors: Chih-ping Chen, Tzu-hao Wang, Chyichyang Lin, Lie Jiau Hsieh, Fuu-jen Tsai, Wayseen WangAbstract: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
Chyichyang Lin - One of the best experts on this subject based on the ideXlab platform.
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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: Chih-ping Chen, Wayseen Wang, 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 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
Elsevier, 2008Co-Authors: Chih-ping Chen, Tzu-hao Wang, Chyichyang Lin, Lie Jiau Hsieh, Fuu-jen Tsai, Wayseen WangAbstract: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
Lie Jiau Hsieh - One of the best experts on this subject based on the ideXlab platform.
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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: Chih-ping Chen, Wayseen Wang, 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 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
Elsevier, 2008Co-Authors: Chih-ping Chen, Tzu-hao Wang, Chyichyang Lin, Lie Jiau Hsieh, Fuu-jen Tsai, Wayseen WangAbstract: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
