MASA Syndrome
MASA syndrom
Je Popsána rodina s MA5A syndromem ve 4 generacích. Identifikace mutace na L1CAM umožňuje diagnostikovat heterozygotní nosiče nebo vyloučit riziko při reprodukci a detekovat prenatálně postižené hemizygotní mužské plody u heterozygotů. Addukce palců je signálem postižení.
Klíčová slova:
MA5A syndrom, mutace na L1CAM genu, mentální retardace, addukce palců
Authors:
E. Seemanová
Authors‘ workplace:
Oddělení klinické genetiky Ústavu biologie a lékařské genetiky 2. LF UK, FN v Motole, Praha, vedoucí MUDr. M. Havlovicová
Published in:
Čes-slov Pediat 2002; (4): 176-178.
Category:
Overview
A family with MA5A Syndrome in 4 generation is described. Identification of the mutation in the L1CAM gene makes it possible to diagnose heterozygous carriers or to exclude the risk of their reproduction and to detect prenatally affected hemizygous male foetuses. Adducted thumbs are a signal of the affection in hemizygotes.
Key words:
MA5A Syndrome, mutation in L1CAM gene, mental retardation, adducted thumbs
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2002 Issue 4
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