Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray
- Affiliated Author(s)
- 신소진; 배진곤; 하정숙; 김천수
- Alternative Author(s)
- Shin, So Jin; Bae, Jin Gon; Ha, Jung Sook; Kim, Chun Soo
- Journal Title
- Obstetrics & Gynecology Science
- ISSN
- 2287-8572
- Issued Date
- 2014
- Keyword
- 7q deletion; 7q21.13; 7q22.1
- Abstract
- We report a case of de novo 7q interstitial deletion detected by conventional karyotyping and by microarray of amniotic fluid sampled during the prenatal period. A 32-year-old pregnant woman was evaluated at our hospital following detection of increased nuchal translucency at 12 weeks and 5 days of gestation. Conventional karyotyping revealed 46,XX,del(7)(q21q22) in 20 interphase mitotic cells, and high-resolution microarray revealed 12.8 Mb (90,625,014–103,430,901) deletion in the region 7q21.13q22.1. Both parents had normal karyotypes. After birth, the neonate displayed several anomalies, including palatine cleft, upslanted and wide palpebral fissure, low-set ears, micrognathia, microcephaly, ventriculomegaly, subglottic tracheal stenosis, hearing loss, and hand/foot deformities, including brachydactyly, polydactyly, and cutaneous syndactyly. This case study helps explain the phenotype–genotype relationship in patients with 7q21.13q22.1 deletion.
Keywords: 7q deletion; 7q21.13; 7q22.1
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