A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma

Cytogenetics, molecular, and methylation studies

Giorgio Gimelli, Roberto Giorda, Silvana Beri, Stefania Ginielli, Orsetta Zuffardi

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Cytogenetic analysis of a young woman with gonadal dysgenesis and bilateral gonadoblastoma shared a male karyotype with a rearranged Y chromosome, interpreted as a pericentric inversion. The breakpoints, defined by fluorescent in situ hybridization (FISH), were located on the very distal short arm on band Yp11.31 and in the middle of the Yq12 long arm heterochromatic region. FISH analysis documented that the short arm breakpoint was 93 Kb distal to SRY and disrupted the CD99 gene, which was transposed to the distal portion of Yq12. The proposita's phenotype was similar to that of XY individuals with gonadal dysgenesis but without signs of Ullrich-Turner syndrome. There were no mutations in the SRY gene. Cytogenetic analysis in the proposita's father showed mosaicism of a normal Y chromosome and several different rearrangements, such as deletion of a heterochromatin portion at band Yq12.2, a fragile site at the same band, structural rearrangements between the Y-chromosome and other autosomes, Y-chromosome aneuploidies, and "Premature Centromere Division" (PCD) anomaly. The proposita's inverted Y chromosome appears to have originated from paternal Y chromosome instability. The patient's female phenotype could be due to SRY CpG methylation-mediated positional effects (PEV).

Original languageEnglish
Pages (from-to)40-45
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume140 A
Issue number1
DOIs
Publication statusPublished - Jan 1 2006

Fingerprint

Gonadoblastoma
Gonadal Dysgenesis
Y Chromosome
Cytogenetics
Methylation
Cytogenetic Analysis
Fluorescence In Situ Hybridization
Phenotype
Chromosomal Instability
Turner Syndrome
Mosaicism
Heterochromatin
Centromere
Aneuploidy
Karyotype
Fathers
Genes
Mutation

Keywords

  • Gonadoblastoma
  • Pericentric inversion
  • Positional variegation effect
  • SRY gene
  • XY female
  • Y-heterochromatin

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma : Cytogenetics, molecular, and methylation studies. / Gimelli, Giorgio; Giorda, Roberto; Beri, Silvana; Ginielli, Stefania; Zuffardi, Orsetta.

In: American Journal of Medical Genetics, Vol. 140 A, No. 1, 01.01.2006, p. 40-45.

Research output: Contribution to journalArticle

Gimelli, Giorgio ; Giorda, Roberto ; Beri, Silvana ; Ginielli, Stefania ; Zuffardi, Orsetta. / A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma : Cytogenetics, molecular, and methylation studies. In: American Journal of Medical Genetics. 2006 ; Vol. 140 A, No. 1. pp. 40-45.
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