Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray
Obstetrics & Gynecology Science
;
: 318-324, 2014.
Article
Dans Anglais
| WPRIM
| ID: wpr-37128
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Parents
/
Diagnostic prénatal
/
Malformations
/
Sténose trachéale
/
Polydactylie
/
Syndactylie
/
Parturition
/
Femmes enceintes
/
Mesure de la clarté nucale
/
Oreille
Type d'étude:
Etude diagnostique
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Nouveau-né
/
Grossesse
langue:
Anglais
Texte intégral:
Obstetrics & Gynecology Science
Année:
2014
Type:
Article
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