Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

Prenat Diagn. 2002 Aug;22(8):675-80. doi: 10.1002/pd.376.

Abstract

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amniocentesis*
  • Chromosome Breakage
  • Chromosomes, Human, Pair 21*
  • Chromosomes, Human, X
  • Chromosomes, Human, Y*
  • DNA-Binding Proteins / genetics*
  • Female
  • Gene Deletion
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Maternal Age
  • Nuclear Proteins*
  • Phenotype
  • Pregnancy
  • Pregnancy, High-Risk
  • Sex Chromosome Aberrations*
  • Sex-Determining Region Y Protein
  • Transcription Factors*
  • Translocation, Genetic*

Substances

  • DNA-Binding Proteins
  • Nuclear Proteins
  • SRY protein, human
  • Sex-Determining Region Y Protein
  • Transcription Factors