Monosomy 5p and trisomy 12p in a boy with familial balanced translocation.
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.
Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK. pradeepcv@yahoo.com
Pradeep C
PC
Vasudevan
Michael J
MJ
Parker
D000328:Adult; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005190:Family; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000150:complications / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000150:complications / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009006:Monosomy / Q000235:genetics*; D013576:Syndactyly / Q000150:complications; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*