Abstract |
The distal region on the short arm of chromosome 9 is of special interest for scientists interested in sex development as well as in the clinical phenotype of patients with the 9p deletion syndrome, characterized by mental retardation, trigonocephaly and other dysmorphic features. Specific genes responsible for different aspects of the phenotype have not been identified. Distal 9p deletions have also been reported in patients with 46,XY sex reversal, with or without 9p deletion syndrome. Within this region the strongest candidates for the gonadal dysgenesis phenotype are the DMRT genes; however, the genetic mechanism is not clear yet. Multiple ligation-dependent probe amplification represents a useful technique to evaluate submicroscopic interstitial or distal deletions that would help the definition of the minimal sex reversal region on 9p and could lead to the identification of gene(s) responsible of the 46,XY gonadal disorders of sex development (DSD). We designed a synthetic probe set that targets genes within the 9p23-9p24.3 region and analyzed a group of XY patients with impaired gonadal development. We characterized a deletion distal to the DMRT genes in a patient with isolated 46,XY gonadal DSD and narrowed down the breakpoint in a patient with a 46,XY del(9)( p23) karyotype with gonadal DSD and mild symptoms of 9p deletion syndrome. The results are compared with other patients described in the literature, and new aspects of sex reversal and the 9p deletion syndrome candidate regions are discussed.
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Authors | Michela Barbaro, Antonio Balsamo, Britt Marie Anderlid, Anne Grethe Myhre, Monia Gennari, Annalisa Nicoletti, Maria Carla Pittalis, Mikael Oscarson, Anna Wedell |
Journal | European journal of human genetics : EJHG
(Eur J Hum Genet)
Vol. 17
Issue 11
Pg. 1439-47
(Nov 2009)
ISSN: 1476-5438 [Electronic] England |
PMID | 19417767
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- DMRT1 protein
- Sex-Determining Region Y Protein
- Transcription Factors
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Topics |
- Abnormalities, Multiple
(genetics)
- Chromosomes, Human, Pair 9
- Female
- Gonadal Dysgenesis, 46,XY
(genetics)
- Humans
- Nucleic Acid Amplification Techniques
- Sequence Deletion
- Sex-Determining Region Y Protein
(genetics)
- Syndrome
- Transcription Factors
(genetics)
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