46,XX sex reversal with partial duplication of chromosome arm 22q

We present a case of 46,XX sex reversal in the absence of SRY but with partial duplication of chromosome 22q. The subject had multiple congenital anomalies but nearly complete masculinization of the external genitalia. Our case along with a previous case supports the existence of a gene on chromosom...

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Bibliographic Details
Published in:American journal of medical genetics 2004-06, Vol.127A (2), p.149-151
Main Authors: Seeherunvong, Tossaporn, Perera, Erasmo M., Bao, Yong, Benke, Paul J., Benigno, Adelaida, Donahue, Roger P., Berkovitz, Gary D.
Format: Article
Language:English
Subjects:
46,XX sex reversal
Aneuploidy
Biological and medical sciences
chromosome arm 22q duplication
Chromosome Disorders - genetics
Chromosomes, Human, Pair 22 - genetics
Cytogenetic Analysis
Disorders of Sex Development
DNA-Binding Proteins - genetics
DNA-Binding Proteins - metabolism
Female
General aspects. Genetic counseling
High Mobility Group Proteins - genetics
High Mobility Group Proteins - metabolism
Humans
Male
Medical genetics
Medical sciences
Microsatellite Repeats - genetics
Sex Determination Processes
SOX10
SOXE Transcription Factors
SRY
Transcription Factors
XX sex reversal
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Summary:We present a case of 46,XX sex reversal in the absence of SRY but with partial duplication of chromosome 22q. The subject had multiple congenital anomalies but nearly complete masculinization of the external genitalia. Our case along with a previous case supports the existence of a gene on chromosome 22q that can trigger testis determination in the absence of SRY. We proposed that overexpression of the SOX10 gene at 22q13 might be the cause of sex reversal. We investigated 13 additional subjects with SRY‐negative 46,XX sex reversal for microduplication of chromosome arm 22q in the region of SOX10 gene, but could not find evidence for it. © 2004 Wiley‐Liss, Inc.
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.20630