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Partial trisomy of 15q due to inserted inverted duplication
N Elçioglu1, C Fear, A C Berry
1Division of Medical and Molecular Genetics, UMDS, Guy's Hospital, London, UK.
Clinical Genetics
|March 31, 1998
Abstract:
A de novo abnormal chromosome 15, with an inverted duplication of the segment (15q13.3 --> 15q21.3) at 15q24.3, was found in a boy with mild developmental delay, facial dysmorphism, Marfan-like appearance and severe language delay. There is an unusual disparity between the severe lack of speech and the presence of reasonable skills in other areas.