Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.
We report the clinical findings in a boy with mosaicism for a duplication of chromosome 12q13.1-->q24.2. His clinical characteristics are very similar to previously reported mosaic duplications of the distal long arm of 12, as well as several cases with non-mosaic duplications. It is proposed that this represents a clinically distinguishable syndrome for 12q duplication, in mosaic or non-mosaic form.
Dixon
J W
JW
Medical Genetics and Cytogenetics, Wellington Hospital, New Zealand.
Costa
T
T
Teshima
I E
IE
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics*; D006333:Heart Failure / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014314:Trisomy