Sex reversal from functional disomy of Xp: Prenatal and post-mortem findings.

Maria Piccione, Giovanni Corsello, Emiliano Maresi, Laura Seminara, Giovanni Neri, Marcella Zollino, Cinzia Sanfilippo

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)

Abstract

Translocations involving the short arms of the X and Y chromosomes are uncommon and are often associated with anomalies in gonadal development. Segmental duplications of the X chromosome interfere with the formation of the testis in patients with a 46,XY karyotype. The gene products located within the duplicated segment, when present in double dose, may affect on male sex development. We report on a fetus with karyotype 46,XY,der (14)t(X;14) (p10;p10)dn. Attached to chromosome 14 is the entire short arm of the X chromosome. Therefore, the fetus is affected with a disomy of Xp, resulting in complete male to female sex reversal, as well as other structural defects. To the best of our knowledge, this is the first description of an XY fetus with a pure duplication of the entire short arm of X chromosome
Original languageEnglish
Pages (from-to)2681-2687
Number of pages8
JournalAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume146A
Publication statusPublished - 2008

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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