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Am J Med Genet ; 12(2): 131-9, 1982 Jun.
Article in English | MEDLINE | ID: mdl-7102721

ABSTRACT

An abnormal karyotype consisting of 48 chromosomes has been found in a 16-year-old boy with severe psychomotor retardation and congenital anomalies. The two extra chromosomes: a 15q - and a small metacentric marker appear as derivatives of chromosome 15(48, XY, + 15q -, + mar(15). The healthy father has a mosaic chromosome constitution 46, XY/47, XY, + mar(15) and this additional chromosome is also present in the propositus. It is suggested that the presence of the extra chromosome in the father's germ cells may play a role in the production of the additional 15q - chromosome responsible for the clinical syndrome of the propositus.


Subject(s)
Chromosome Aberrations/genetics , Chromosomes, Human, 13-15/ultrastructure , Psychomotor Disorders/genetics , Trisomy , Abnormalities, Multiple/genetics , Adolescent , Chromosome Banding , Chromosome Disorders , Face/abnormalities , Humans , Intellectual Disability/genetics , Karyotyping , Kyphosis/genetics , Male , Models, Genetic , Mosaicism
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