title: 47,X,idic(Y),inv dup(Y): a non-mosaic case of a phenotypically normal boy with two different Y isochromosomes and neocentromere formation.
abstract: A de novo aberrant karyotype with 47 chromosomes including 2 different-sized markers was identified during prenatal diagnosis. Fluorescence in situ hybridization (FISH) with a Y painting probe tagged both marker chromosomes which were supposed to be isochromosomes of the short and the long arm, respectively. A normal boy was born in time who shows normal physical and mental development. To characterize both Y markers in detail, we postnatally FISH-mapped a panel of Y chromosomal probes including SHOX (PAR1), TSPY, DYZ3 (Y centromere), UTY, XKRY, CDY, RBMY, DAZ, DYZ1 (Yq12 heterochromatin), SYBL1 (PAR2), and the human telomeric sequence (TTAGGG)(n). The smaller Y marker turned out to be an isochromosome containing an inverted duplication of the entire short arm, the original Y centromere, and parts of the proximal long arm, including AZFa. The bigger Y marker was an isochromosome of the rest of the Y long arm. Despite a clearly visible primary constriction within one of the DAPI- and DYZ1-positive heterochromatic regions, hybridization of DYZ3 detected no Y-specific alphoid sequences in that constriction. Because of its stable mitotic distribution, a de novo formation of a neocentromere has to be assumed.
authors.affiliation: Department of Biochemistry, Genetics and Immunology, University of Vigo, Vigo, Spain.
authors.forename: J J
authors.initials: JJ
authors.lastname: Pasantes
authors.forename: R
authors.initials: R
authors.lastname: Wimmer
authors.forename: S
authors.initials: S
authors.lastname: Knebel
authors.forename: C
authors.initials: C
authors.lastname: Münch
authors.forename: C
authors.initials: C
authors.lastname: Kelbova
authors.forename: A
authors.initials: A
authors.lastname: Junge
authors.forename: P
authors.initials: P
authors.lastname: Kieback
authors.forename: P
authors.initials: P
authors.lastname: Küpferling
authors.forename: W
authors.initials: W
authors.lastname: Schempp
mesh_terms: D002503:Centromere / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D007446:Chromosome Inversion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D018404:Isochromosomes / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations