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
| Autor: | Richard Shih Hung Young, Schu Rern Chern, Chen Wen Pan, Chih-Ping Chen, Dai Dyi Town, Fuu Jen Tsai, Wayseen Wang, Yi Ning Su, Pei Chen Wu |
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| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Monosomy Derivative chromosome Chromosomes Human Pair 22 trisomy 16p monosomy 22q Prenatal diagnosis Trisomy lcsh:Gynecology and obstetrics Pregnancy Obstetrics and Gynaecology medicine Amniocyte Humans ventriculomegaly lcsh:RG1-991 Ultrasonography Genetics Comparative Genomic Hybridization fetal ascites medicine.diagnostic_test business.industry Mosaicism Obstetrics and Gynecology Ascites Abortion Induced chromosome 16 medicine.disease chromosome 22 Fetal Diseases Karyotyping Amniocentesis Female business Chromosomes Human Pair 16 Comparative genomic hybridization Ventriculomegaly Hydrocephalus |
| Zdroj: | Taiwanese Journal of Obstetrics & Gynecology, Vol 49, Iss 4, Pp 506-512 (2010) |
| ISSN: | 1028-4559 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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