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Literature DB >> 10377005

True hermaphroditism with partial duplication of chromosome 22 and without SRY.

K A Aleck¹, L Argueso, J Stone, J G Hackel, R P Erickson.

Abstract

We present the case of a patient with true hermaphroditism and partial duplication of chromosome 22. Cytogenetic evaluation showed no evidence of a Y chromosome in blood, skin, or gonadal tissue. Additional investigations using molecular probes showed no evidence of SRY. We conclude that there are genes on chromosome 22 that are involved in sex determination.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1999 PMID： 10377005 DOI： 10.1002/(sici)1096-8628(19990702)85:1<2::aid-ajmg2>3.0.co;2-g

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

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Cited

12 in total

1. Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.

Authors: Roberto Mendoza-Londono; Edward Lammer; Rosemarie Watson; John Harper; Atsushi Hatamochi; Saori Hatamochi-Hayashi; Dobrawa Napierala; Pia Hermanns; Sinead Collins; Benjamin B Roa; Madhuri R Hedge; Keiko Wakui; Diep Nguyen; David W Stockton; Brendan Lee
Journal: Am J Hum Genet Date: 2005-05-27 Impact factor: 11.025

2. XX male with sex reversal and a de novo 11;22 translocation.

Authors: Merryn V E Macville; Wim H Loneus; Dominique Marcus-Soekarman; Erik H L P G Huys; Eric F P M Schoenmakers; April Schrank-Hacker; Beverly S Emanuel; John J M Engelen
Journal: Am J Med Genet A Date: 2006-09-15 Impact factor: 2.802

3. 22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.

Authors: Nadia Falah; Jennifer E Posey; Willa Thorson; Paul Benke; Mustafa Tekin; Brocha Tarshish; James R Lupski; Tamar Harel
Journal: Am J Med Genet A Date: 2017-04 Impact factor: 2.802

True hermaphroditism with partial duplication of chromosome 22 and without SRY.

1. Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.

2. XX male with sex reversal and a de novo 11;22 translocation.

3. 22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.

4. Global survey of protein expression during gonadal sex determination in mice.

5. Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports.

Review 6. New technologies for the identification of novel genetic markers of disorders of sex development (DSD).

Review 7. Mammalian sex determination—insights from humans and mice.

Review 8. Regulation of male sex determination: genital ridge formation and Sry activation in mice.

9. NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

10. Molecular mechanism of male differentiation is conserved in the SRY-absent mammal, Tokudaia osimensis.