Premium
Sex reversal from functional disomy of Xp: Prenatal and post‐mortem findings
Author(s) -
Piccione Maria,
Maresi Emiliano,
Zollino Marcella,
Sanfilippo Cinzia,
Seminara Laura,
Neri Giovanni,
Corsello Giovanni
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32514
Subject(s) - karyotype , chromosomal translocation , fetus , biology , chromosome , gene duplication , x chromosome , genetics , disorders of sex development , gene , pregnancy
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. © 2008 Wiley‐Liss, Inc.