Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family.

AUTOR(ES)
RESUMO

We present a family segregating for t(5;9)(p15.1;q34.13). Two cases with der(5),t(5;9), resulting in a partial duplication 9q34.13----qter and partial deletion of 5p15.12----pter, were ascertained. The phenotypes were consistent with features of both the cri du chat and trisomy 9q3 syndromes.

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