PT  - JOURNAL ARTICLE
AU  - T Ogata
AU  - J R Hawkins
AU  - A Taylor
AU  - N Matsuo
AU  - J Hata
AU  - P N Goodfellow
TI  - Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation.
AID  - 10.1136/jmg.29.4.226
DP  - 1992 Apr 01
TA  - Journal of Medical Genetics
PG  - 226--230
VI  - 29
IP  - 4
4099  - http://jmg.bmj.com/content/29/4/226.short
4100  - http://jmg.bmj.com/content/29/4/226.full
SO  - J Med Genet1992 Apr 01; 29
AB  - We report on a sex reversed Japanese child with a 46,X,Yp+ karyotype, minor dysmorphic features, and no testicular development. The Yp+ chromosome was derived by translocation of an Xp fragment (Xp21-Xp22.3) to Yp11.3. This has resulted in deletion of distal part of the Y chromosome pseudoautosomal region (DXYS15-telomere) and duplication of the X specific region (DXS84-PABX) and proximal part of the pseudoautosomal region (MIC2-DXYS17). No deletion of the Y specific region was detected nor was any mutation found in SRY. Cytogenetic analysis suggests that the proximal part of the Xp fragment is the most distal part of the short arm of the Yp+ chromosome (Xp21----Xp 22.3::Yp11.3----Yqter). No chromosomal mosaicism was detected. These results are similar to previous reports of sex reversal in four subjects with a 46,Y,Xp+ karyotype. We conclude that the sex reversal is a direct, or indirect, consequence of having two active copies of the distal part of Xp and may indicate the presence of a gene(s) which acts in the testis determination or differentiation pathway.