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.
Akbas
E
E
University of Mersin, Faculty of Medicine, Department of Medical Biology and Genetics, Mersin, Turkey.
Soylemez
F
F
Savasoglu
K
K
Halliogluand
O
O
Balci
S
S
D000782:Aneuploidy; D002675:Child, Preschool; D004314:Down Syndrome / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype