Résumé
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.
Sujets)
Adulte , Femelle , Humains , Nouveau-né , Grossesse , Liquide amniotique , Brachydactylie , Malformations , Oreille , Perte d'audition , Interphase , Caryotype , Caryotypage , Microcéphalie , Mesure de la clarté nucale , Parents , Parturition , Polydactylie , Femmes enceintes , Diagnostic prénatal , Syndactylie , Sténose trachéaleRésumé
Chromosome 7q deletion, relatively rare syndrome, was first described by de Grouchy in 1969. The most frequent clinical manifestations of a "7q deletion syndrome" include; low birth weight, postnatal growth retardation, mental retardation, developmental delay, microcephaly, congenital heart disease, hypotonia, bulbous nasal tip and abnormal ears. We report a case of 7q deletion syndrome with microcephaly, upslanting palpabral fissure, micrognathia, bulbous nasal tip, developmental delay and hydronephrosis.