Low MSAFP levels and Williams syndrome

1997; Wiley; Volume: 72; Issue: 4 Linguagem: Inglês

10.1002/(sici)1096-8628(19971112)72

ISSN

1096-8628

Autores

Bernard N. Chodirker, Cheryl R. Greenberg, Niels G. Giddins, Angelika J. Dawson, Jane Evans, Albert E. Chudley,

Tópico(s)

Williams Syndrome Research

Resumo

Williams syndrome (WS) is associated with a deletion of the elastin gene in over 90% of cases. We report maternal serum alpha feto-protein (MSAFP) levels in 5 women whose fetuses were later diagnosed as having WS. MSAFP levels ranged from 0.5–0.8 multiples of the median (MOM). Although further confirmation is necessary, it appears that MSAFP levels are lower than the median in WS. This apparent association has implications for counselling women following maternal serum screening. Am. J. Med. Genet. 72:448–450, 1997. © 1997 Wiley-Liss, Inc.

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