title: Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray.
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.
authors.affiliation: Department of Laboratory Medicine, Keimyung University School of Medicine, Deagu, Korea.
authors.forename: Kyoung-Bo
authors.initials: KB
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, Keimyung University School of Medicine, Deagu, Korea.
authors.forename: Jung-Sook
authors.initials: JS
authors.lastname: Ha
authors.affiliation: Department of Obstetrics and Gynecology, Keimyung University School of Medicine, Deagu, Korea.
authors.forename: So-Jin
authors.initials: SJ
authors.lastname: Shin
authors.affiliation: Department of Pediatrics, Keimyung University School of Medicine, Deagu, Korea.
authors.forename: Chun Soo
authors.initials: CS
authors.lastname: Kim
authors.affiliation: Department of Obstetrics and Gynecology, Keimyung University School of Medicine, Deagu, Korea.
authors.forename: Jin-Gon
authors.initials: JG
authors.lastname: Bae
keywords: 7q deletion; 7q21.13; 7q22.1
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