✦ LIBER ✦

Prenatal diagnosis of Apert syndrome

✍ Scribed by Chi-Chen Chang; Fuu-Jen Tsai; Horng-Der Tsai; Chang-Hai Tsai; Yao-Yuan Hsieh; Chien-Chung Lee; Tung-Chuan Yang; Jer-Yuarn Wu

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 208 KB
Volume: 18
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199806)18:6<621::aid-pd307>3.0.co;2-5

No coin nor oath required. For personal study only.

✦ Synopsis

Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mother and son in whom one of the two mutations in AS had occurred sporadically in the mother. The diagnosed of AS was based on associated abnormal physical features and on molecular genetic analysis. A C-to-G transversion at position 937 of the cDNA resulting in a proline-to-arginine substitution at codon 259 was found in the mother. In her second pregnancy, prenatal diagnosis by both restriction analysis and direct sequencing was undertaken and this showed that the female fetus had not inherited the mutation.

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