Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray
Obstetrics & Gynecology Science
; : 318-324, 2014.
Article
em En
| WPRIM
| ID: wpr-37128
Biblioteca responsável:
WPRO
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.
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Texto completo:
1
Índice:
WPRIM
Assunto principal:
Pais
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Diagnóstico Pré-Natal
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Anormalidades Congênitas
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Estenose Traqueal
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Polidactilia
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Sindactilia
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Parto
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Gestantes
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Medição da Translucência Nucal
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Orelha
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Female
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Humans
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Newborn
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Pregnancy
Idioma:
En
Revista:
Obstetrics & Gynecology Science
Ano de publicação:
2014
Tipo de documento:
Article