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[Monosomy 7qter (author's transl)].

作者信息

Lambert J C, Mariani R, Donzeau M, Ferrari M, Boutte P, Ayraud N

出版信息

Arch Fr Pediatr. 1981 Mar;38(3):177-80.

PMID:7235841
Abstract

A terminal deletion of the long arm of chromosome 7 is identified in a boy observed from birth to age 6 months. Eleven previously reported cases were reviewed. Eleven previously reported cases were reviewed. The most common features are microcephaly with brachycephaly, prominent forehead, large ears, a nose with bulbous tip, overlapping toes, genital abnormalities in the males and excess of subcutaneous tissue. Delayed mental and physical development is a general rule but visceral malformations seem uncommon.

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