Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies
| Autor: | Chau-Yang Tien, Kwei-Shuai Hwang, Chih-Ping Chen, Ying-Chieh Chen, Wen-Chien Hou, Her-Young Su, Yu-Ju Lai |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Adult
Male medicine.medical_specialty Foot Deformities Congenital Genetic counseling chromosome 9p deletion Trigonocephaly Prenatal diagnosis Telecanthus lcsh:Gynecology and obstetrics Ultrasonography Prenatal Pregnancy Obstetrics and Gynaecology medicine Humans Abnormalities Multiple Chromosomal Deletion lcsh:RG1-991 Fetus Omphalocele omphalocele prenatal diagnosis Symbrachydactyly business.industry Obstetrics Obstetrics and Gynecology medicine.disease Female Syndactyly Chromosome Deletion business Chromosomes Human Pair 9 Hand Deformities Congenital Abortion Eugenic Hernia Umbilical |
| Zdroj: | Taiwanese Journal of Obstetrics & Gynecology, Vol 53, Iss 4, Pp 602-605 (2014) |
| ISSN: | 1028-4559 |
| DOI: | 10.1016/j.tjog.2014.09.005 |
| Popis: | Objective We describe a prenatal ultrasonography diagnosis of omphalocele and symbrachydactyly in a fetus and review the literature on prenatal diagnosis of 9p terminal chromosomal deletions. Case report A 31-year-old woman (gravida 3, para 1) was referred for genetic counseling because a fetal omphalocele had been detected. Prenatal ultrasonography at 17+ weeks of gestational age revealed a singleton female fetus with biometry equivalent to 18 weeks with an omphalocele. In addition, symbrachydactyly was also noted in the right arm; the wrist bones as well as the metacarpals were missing. A chromosomal study was arranged for a congenital anomaly involving omphalocele. We obtained Giemsa-banded chromosomes from fetal tissue cells, and an abnormal male karyotype with a terminal deletion of the short arm of chromosome 9 at band 9p13 was noted. After delivery, the fetus showed omphalocele, symbrachydactyly, trigonocephaly, sex reversal, a long philtrum, low-set ears, telecanthus, and a frontal prominence. Conclusion Prenatal diagnosis of abnormal ultrasound findings with omphalocele and symbrachydactyly should include the differential diagnosis of a chromosome 9p deletion. |
| Databáze: | OpenAIRE |
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