Wolf-Hirschhorn and Cri du Chat syndromes resulting from familial translocations: 3 further examples of the Bp monosomy epistatic effect |
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| Authors: | P Petit J P Fryns |
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| Affiliation: | Centre for Human Genetic, U.Z. Gasthuisberg, Leuven, Belgium. |
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| 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. |
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