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We report on a boy with monosomy 5p involving the Cri-du-Chat critical region and trisomy 12p detected by subtelomere study. Familial studies showed that the boy's mother and paternal grandfather had a balanced reciprocal translocation between the short arm of chromosomes 5 and 12. The boy had an overlap of features of both chromosomal conditions, even though the Cri-du-Chat phenotype was more prominent.

Original publication

DOI

10.1097/01.mcd.0000184971.69033.27

Type

Journal article

Journal

Clin Dysmorphol

Publication Date

04/2006

Volume

15

Pages

85 - 87

Keywords

Adult, Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 5, Family, Female, Fingers, Foot Deformities, Congenital, Hand Deformities, Congenital, Humans, In Situ Hybridization, Fluorescence, Infant, Infant, Newborn, Male, Monosomy, Syndactyly, Translocation, Genetic, Trisomy