Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > Constitutional ploidy anomalies > 45,X/69,XXY triploid mosaicism

45,X/69,XXY triploid mosaicism

Tuesday 19 December 2006

Synopsis

- male ambiguous genitalia (#16152633#)

  • bilaterally palpable testes
  • penoscrotal hypospadias
  • chordee
  • bifid scrotum

Physiopathology

- delayed dispermy rather than delayed polar body inclusion (#16152633#)

References

- Quigley DI, McDonald MT, Krishnamuthy V, Kishnani PS, Lee MM, Haqq AM, Goodman BK. Triploid mosaicism in a 45,X/69,XXY infant. Am J Med Genet A. 2005 Oct 1;138(2):171-4. PMID: #16152633#