Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray
Obstetrics & Gynecology Science
;
: 318-324, 2014.
Article
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parents
/
Prenatal Diagnosis
/
Congenital Abnormalities
/
Tracheal Stenosis
/
Polydactyly
/
Syndactyly
/
Parturition
/
Pregnant Women
/
Nuchal Translucency Measurement
/
Ear
Type of study:
Diagnostic study
Limits:
Adult
/
Female
/
Humans
/
Infant, Newborn
/
Pregnancy
Language:
English
Journal:
Obstetrics & Gynecology Science
Year:
2014
Type:
Article
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