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KMID : 0358420140570040318
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Korean Journal of Obstetrics and Gynecology
2014 Volume.57 No. 4 p.318 ~ p.324
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Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray
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Kim Kyoung-Bo
Ha Jung-Sook
Shin So-Jin
Bae Jin-Gon
Kim Chun-Soo
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Abstract
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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.
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KEYWORD
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7q deletion, 7q21.13, 7q22.1
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