Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray.
10.5468/ogs.2014.57.4.318
- Author:
Kyoung Bo KIM
1
;
Jung Sook HA
;
So Jin SHIN
;
Chun Soo KIM
;
Jin Gon BAE
Author Information
1. Department of Laboratory Medicine, Keimyung University School of Medicine, Deagu, Korea.
- Publication Type:Case Report
- Keywords:
7q deletion;
7q21.13;
7q22.1
- MeSH:
Adult;
Amniotic Fluid;
Brachydactyly;
Congenital Abnormalities;
Ear;
Female;
Hearing Loss;
Humans;
Infant, Newborn;
Interphase;
Karyotype;
Karyotyping;
Microcephaly;
Nuchal Translucency Measurement;
Parents;
Parturition;
Polydactyly;
Pregnancy;
Pregnant Women;
Prenatal Diagnosis*;
Syndactyly;
Tracheal Stenosis
- From:Obstetrics & Gynecology Science
2014;57(4):318-324
- CountryRepublic of Korea
- Language:English
-
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.
