A male case with double aneuploidy (48,XXY,+21).
The co-occurrence of two numerical chromosomal abnormalities in same individual (double aneuploidy) is relatively rare and the clinical presentations are variable depending on the predominating aneuploidy or a combination effect of both. Furthermore, double aneuploidy involving both autosomal and sex chromosomes is seldom described. We describe a male patient with typical clinical features of Down Syndrome and his karyotype revealed 48,XXY,+21. The phenotypic characteristics of this child have been discussed in the light of the published reports on double aneuploidies of XXY and trisomy 21.
University of Mersin, Faculty of Medicine, Department of Medical Biology and Genetics, Mersin, Turkey.
E
E
Akbas
F
F
Soylemez
K
K
Savasoglu
O
O
Halliogluand
S
S
Balci
D000782:Aneuploidy; D002675:Child, Preschool; D004314:Down Syndrome / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype