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Letters to JMG
Familial X/Y translocations associated with variable sexual phenotype
  1. A Sharp1,
  2. K Kusz2,
  3. J Jaruzelska2,
  4. M Szarras-Czapnik3,
  5. J Wolski4,
  6. P Jacobs1
  1. 1Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK
  2. 2Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479, Poznan, Poland
  3. 3The Children’s Memorial Health Institute, Warsaw, Poland
  4. 4Infertility Center Novum, Warsaw, Poland
  1. Correspondence to:
 A Sharp
 Department of Genetics, BRB747A, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106, USA; asharpsoton.ac.uk

https://doi.org/10.1136/jmg.2003.017624

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    True hermaphroditism, defined clinically as the presence of both male and female gonadal tissue in the same individual usually accompanied by ambiguous genitalia, is a genetically heterogeneous condition.1–3 Less than 10% of true hermaphrodites with an apparent 46,XX constitution are SRY-positive, usually resulting from translocation between Xp and Yp.4–7 Previously we described two true hermaphrodites (AK and PG) of Polish origin, both of whom carry X/Y translocations with SRY translocated onto distal Xp.6 Here, we show that the same X/Y translocation is also carried by fertile male and female relatives of the hermaphrodite probands, and identify varying sexual phenotype in individuals with the same chromosome abnormality.

    AK was ascertained aged 17 with ambiguous internal and external genitalia. Biopsy revealed a left ovary and a right testis with no signs of spermatogenesis. PG was ascertained at 6 months of age with ambiguous internal and external genitalia. She was found to have a right ovary and a left ovotestis, which was removed and upon microscopical examination showed signs of dysgenesis in the testicular part. Circulating testosterone levels were <0.1 ng/ml, rising to 0.2 ng/ml following hCG stimulation. Now aged 15, her remaining ovary has developed apparently normally, she menstruates regularly, and thus may be fertile. There was no family history of sex discrepancy in either pedigree, with no indication of abnormalities of sexual development in any of the relatives examined.

    By PCR of STS markers, breakpoints on the Y chromosome were localised 6–7 kb proximal to SRY in both AK and PG (data not shown). In order to map breakpoints on the X chromosome we obtained parental blood samples, extracted DNA, and amplified microsatellite markers located in distal Xp. Results for DXYS228X, located within the proximal region of the Xp/Yp pseudo-autosomal region (PAR1) approximately 80 kb …

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    Footnotes

    • This work was supported by a grant from the Wellcome Trust (Ref. 058387).

    • Conflict of interest: none declared.