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Wolf-Hirschhorn and Cri du Chat syndromes resulting from familial translocations: 3 further examples of the Bp monosomy epistatic effect.

作者信息

Petit P, Fryns J P

机构信息

Centre for Human Genetic, U.Z. Gasthuisberg, Leuven, Belgium.

出版信息

Genet Couns. 1990;1(2):179-84.

PMID:2081002
Abstract

Two malformed newborns with the typical Wolf-Hirschhorn syndrome (WHS) resulting from familial balanced translocations t(4;11)(p153;p154) and t(4;18)(p152;q23) respectively, are presented. A third child with the Cri du Chat syndrome and der(5), t(2;5)(q333;p141) is reported. These three cases give further support to the epistatic hypothesis at the chromosomal level of the Bp monosomies over other partial autosomal trisomic syndromes.

摘要

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