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Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to interstitial deletion 1q

✍ Scribed by Steinbach, P. ;Wolf, M. ;Schmidt, H.

Publisher: John Wiley and Sons
Year: 1984
Tongue: English
Weight: 353 KB
Volume: 19
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320190114

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✦ Synopsis

Abstract

A severely retarded male infant was found to have a previously undescribed multiple congenital anomalies/mental retardation (MCA/MR) syndrome including microdolichocephaly, prominence of metopic suture, coarse scalp hair, epicanthus, anteverted nostrils, micrognathia, posteriorly angulated malformed auricles, preaxial hexadactyly, clinodactyly, camptodactyly, hypospadias, cryptorchidism, inguinal hernias, agenesis of left kidney, and pyloric stenosis. This syndrome was due to an interstital del(1)(q25.2q31.2) associated with a paracentric inv(1)(q31.2q44).

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