title: Inherited pericentric inversion of Y-chromosome with trisomy 21. A case report.
abstract: 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.
authors.affiliation: Department of Zoology, School of Sciences, Gujarat University, Ahmedabad, India.
authors.forename: D S
authors.initials: DS
authors.lastname: Krishna Murthy
authors.forename: S K
authors.initials: SK
authors.lastname: Murthy
authors.forename: J K
authors.initials: JK
authors.lastname: Patel
authors.forename: G N
authors.initials: GN
authors.lastname: Banker
authors.forename: V C
authors.initials: VC
authors.lastname: Shah
mesh_terms: 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