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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: Chihping Chen, Schu-rern Chern, Wayseen Wang, Li-feng Chen, Yi-yung 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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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, 2012Co-Authors: Chihping Chen, Schu-rern Chern, Li-feng Chen, Yi-yung Chen, Yu-ting Chen, Wayseen WangAbstract: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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Prenatal diagnosis of Partial trisomy 3q (3q27.3→qter) and Partial Monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints
Gene, 2012Co-Authors: Chihping Chen, Schu-rern Chern, Wen-lin Chen, Li-feng Chen, Yao-lung Chang, Wayseen WangAbstract:We present rapid aneuploidy diagnosis of Partial trisomy 3q (3q27.3→qter) and Partial Monosomy 14q (14q31.3→qter) of paternal origin by aCGH using uncultured amniocytes in a fetus with hypotonia, scoliosis, arthrogryposis, hyperextensible joints, facial dysmorphism, ventricular septal defect, pulmonary stenosis, clenched hands, clubfoot, scalp edema and right hydronephrosis. We discuss the genotype–phenotype correlation of 3q duplication syndrome and terminal 14q deletion syndrome. We demonstrate that fetuses with a paternal-origin deletion of 14q involving the 14q32.2 imprinted region may prenatally present the upd(14)mat-like phenotype such as hypotonia, scoliosis, arthrogryposis and hyperextensible joints.
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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: Chihping Chen, Schu-rern Chern, Wayseen Wang, Fuu Jen Tsai, 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 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: Chihping Chen, Schu-rern Chern, Fuu Jen Tsai, Chen-chi Lee, Chen-wen Pan, Ming Huei Lin, Wayseen WangAbstract: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.
Chihping Chen - 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: Chihping Chen, Schu-rern Chern, Wayseen Wang, Li-feng Chen, Yi-yung 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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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, 2012Co-Authors: Chihping Chen, Schu-rern Chern, Li-feng Chen, Yi-yung Chen, Yu-ting Chen, Wayseen WangAbstract: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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Prenatal diagnosis of Partial trisomy 3q (3q27.3→qter) and Partial Monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints
Gene, 2012Co-Authors: Chihping Chen, Schu-rern Chern, Wen-lin Chen, Li-feng Chen, Yao-lung Chang, Wayseen WangAbstract:We present rapid aneuploidy diagnosis of Partial trisomy 3q (3q27.3→qter) and Partial Monosomy 14q (14q31.3→qter) of paternal origin by aCGH using uncultured amniocytes in a fetus with hypotonia, scoliosis, arthrogryposis, hyperextensible joints, facial dysmorphism, ventricular septal defect, pulmonary stenosis, clenched hands, clubfoot, scalp edema and right hydronephrosis. We discuss the genotype–phenotype correlation of 3q duplication syndrome and terminal 14q deletion syndrome. We demonstrate that fetuses with a paternal-origin deletion of 14q involving the 14q32.2 imprinted region may prenatally present the upd(14)mat-like phenotype such as hypotonia, scoliosis, arthrogryposis and hyperextensible joints.
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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: Chihping Chen, Schu-rern Chern, Wayseen Wang, Fuu Jen Tsai, 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 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: Chihping Chen, Schu-rern Chern, Fuu Jen Tsai, Chen-chi Lee, Chen-wen Pan, Ming Huei Lin, Wayseen WangAbstract: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.
Joyce A. Mitchell - One of the best experts on this subject based on the ideXlab platform.
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Partial trisomy 6p and Partial Monosomy 9p from a de novo translocation 46, XY, ‐9, + DER(9)T(6:9)(p211:p24)
Clinical genetics, 2008Co-Authors: Melanie S. Eden, James W. Thelin, Karen Michalski, Joyce A. MitchellAbstract:This report describes an adult male with a Partial trisomy 6p(p211-pter) and a Partial Monosomy 9p(9p24-pter) resulting from a de novo unbalanced translocation. This patient does not show the classical featured of the 9p Partial Monosomy syndrome, thus disputing the claim of Hoo et al. (1982) that 9p24 is the critical segment for the Monosomy syndrome. Partial trisomy for 6p has only been previously reported in children. In addition to the chromosomal anomalies, the patient has autosomal recessive spinal muscular atrophy with a different age of onset than two affected sibs. Finally, he shows unusual audiologic and ophthalmologic signs nor previously reported as part of the 9p Monosomy or 6p trisomy syndromes.
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Partial trisomy 6p and Partial Monosomy 9p from a de novo translocation 46 xy 9 der 9 t 6 9 p211 p24
Clinical Genetics, 2008Co-Authors: Melanie S. Eden, James W. Thelin, Karen Michalski, Joyce A. MitchellAbstract:This report describes an adult male with a Partial trisomy 6p(p211-pter) and a Partial Monosomy 9p(9p24-pter) resulting from a de novo unbalanced translocation. This patient does not show the classical featured of the 9p Partial Monosomy syndrome, thus disputing the claim of Hoo et al. (1982) that 9p24 is the critical segment for the Monosomy syndrome. Partial trisomy for 6p has only been previously reported in children. In addition to the chromosomal anomalies, the patient has autosomal recessive spinal muscular atrophy with a different age of onset than two affected sibs. Finally, he shows unusual audiologic and ophthalmologic signs nor previously reported as part of the 9p Monosomy or 6p trisomy syndromes.
Schu-rern Chern - 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: Chihping Chen, Schu-rern Chern, Wayseen Wang, Li-feng Chen, Yi-yung 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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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, 2012Co-Authors: Chihping Chen, Schu-rern Chern, Li-feng Chen, Yi-yung Chen, Yu-ting Chen, Wayseen WangAbstract: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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Prenatal diagnosis of Partial trisomy 3q (3q27.3→qter) and Partial Monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints
Gene, 2012Co-Authors: Chihping Chen, Schu-rern Chern, Wen-lin Chen, Li-feng Chen, Yao-lung Chang, Wayseen WangAbstract:We present rapid aneuploidy diagnosis of Partial trisomy 3q (3q27.3→qter) and Partial Monosomy 14q (14q31.3→qter) of paternal origin by aCGH using uncultured amniocytes in a fetus with hypotonia, scoliosis, arthrogryposis, hyperextensible joints, facial dysmorphism, ventricular septal defect, pulmonary stenosis, clenched hands, clubfoot, scalp edema and right hydronephrosis. We discuss the genotype–phenotype correlation of 3q duplication syndrome and terminal 14q deletion syndrome. We demonstrate that fetuses with a paternal-origin deletion of 14q involving the 14q32.2 imprinted region may prenatally present the upd(14)mat-like phenotype such as hypotonia, scoliosis, arthrogryposis and hyperextensible joints.
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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: Chihping Chen, Schu-rern Chern, Wayseen Wang, Fuu Jen Tsai, 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 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: Chihping Chen, Schu-rern Chern, Fuu Jen Tsai, Chen-chi Lee, Chen-wen Pan, Ming Huei Lin, Wayseen WangAbstract: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.
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: Chihping Chen, Schu-rern Chern, Wayseen Wang, Fuu Jen Tsai, 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 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: Chihping Chen, Schu-rern Chern, Fuu Jen Tsai, Chen-chi Lee, Chen-wen Pan, Ming Huei Lin, Wayseen WangAbstract: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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Perinatal findings and molecular cytogenetic analysis of de novo Partial trisomy 16q (16q22.1-->qter) and Partial Monosomy 20q (20q13.3-->qter).
Prenatal diagnosis, 2005Co-Authors: Chihping Chen, Schu-rern Chern, Chen-chi Lee, Shuan-pei Lin, Chyi-chyang Lin, Wei-min Chen, Lie-jiau Hsieh, Wayseen WangAbstract:Objectives To present the perinatal findings and molecular cytogenetic analysis of de novo Partial trisomy 16q and Partial Monosomy 20q and a review of the literature. Case and Methods Obstetric ultrasound at 33 weeks' gestation revealed intrauterine growth restriction (IUGR) and dolichocephaly in a 27-year-old primigravid woman. Prenatal cytogenetic diagnosis was not offered because of the late stage of gestation. A 2800-g male baby was delivered at 41 weeks' gestation by cesarean section because of fetal distress. The infant postnatally presented characteristic craniofacial dysmorphism, hypotonia, cleft palate, congenital heart defects, a subependymal cyst, and hypospadia. Cytogenetic analysis revealed an additional material attached to the terminal region of chromosome 20q. The parental karyotypes were normal. Spectral karyotyping (SKY), fluorescence in situ hybridization (FISH), and polymorphic DNA markers were used to investigate the origin of the de novo aberrant chromosome. Results SKY using 24-color probes, FISH using specific 16p, 16q, 20 centromeric, and 20q telomeric probes, and polymorphic DNA marker analysis confirmed maternal origin of the duplication of distal 16q and the deletion of terminal 20q. Karyotype of the proband was designated as 46,XY.ish der(20)t(16;20)(q22.1;q13.3)(SKY+,16qTEL+,20qTEL−). Conclusions Partial trisomy 16q (16q22.1qter) and Partial Monosomy 20q (20q13.3qter) may be associated with the perinatal findings of IUGR, dolichocephaly, hypotonia, cleft palate, congenital heart defects, a subependymal cyst, and hypospadia. SKY, FISH, and genetic marker studies help in delineating the parental origin and the regions of the deletion and duplication in the de novo unbalanced translocation. Copyright © 2005 John Wiley & Sons, Ltd.
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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: Chihping Chen, Dai Dyi Town, Schu-rern Chern, 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 Partial Monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.
Prenatal diagnosis, 2001Co-Authors: Chihping Chen, Schu-rern Chern, Wayseen Wang, Chen-chi Lee, Wen-lin Chen, Li-feng Chen, Tung-yao Chang, Chin-yuan TzenAbstract:A prenatal diagnosis of Partial Monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. Cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed Partial Monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. Autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of Down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with Monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside Down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism. Copyright © 2001 John Wiley & Sons, Ltd.