Inherited pericentric inversion of Y-chromosome with trisomy 21. A case report.
A 13-year-old boy with clinical features of Down syndrome was investigated. His karyotype was 47,X,inv(Y),+21. The proband's father and two elder brothers were also found to have the inv(Y). A spontaneous chromatid break was observed in the long arm of the X chromosome[? fra (X)] in 2% of the cells. The mother had two spontaneous abortions. This is the first case of trisomy-21 with inv(Y) in our population. This finding might be fortuitous. The frequency of inv(Y) in Down syndrome is not known.
Krishna Murthy
D S
DS
Department of Zoology, School of Sciences, Gujarat University, Ahmedabad, India.
Murthy
S K
SK
Patel
J K
JK
Banker
G N
GN
Shah
V C
VC
D007446:Chromosome Inversion; D004314:Down Syndrome / Q000150:complications*; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000150:complications*; D014998:Y Chromosome / Q000648:ultrastructure