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Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material
  1. Tohru Yorifujia,
  2. Junko Muroia,
  3. Mitsukazu Mamadaa,
  4. Ayumi Uematsua,
  5. Masahiko Kawaia,
  6. Toru Momoib,
  7. Masayuki Kajic,
  8. Chutaro Yamanakad,
  9. Tatsutoshi Nakahataa
  1. aDepartment of Paediatrics, Kyoto University Hospital, 54 Shogoin Sakyo, Kyoto 606-8507, Japan, bDepartment of Paediatrics, Japanese Red Cross Society, Wakayama Medical Centre, Japan, cDepartment of Endocrinology and Metabolism, Shizuoka Children's Hospital, Japan, dDepartment of Paediatrics, Tenri Hospital, Japan
  1. Dr Yorifuji, yorif{at}

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Editor—Turner syndrome is one of the most common chromosomal abnormality syndromes affecting 1 in 2500 liveborn females. The syndrome is characterised by short stature, gonadal dysgenesis, congenital heart disease, renal anomalies, and a variety of somatic features including neck webbing, cubitus valgus, short neck, and widely set nipples. Nearly half of the patients have a classical 45,X karyotype while others have structurally abnormal sex chromosomes (for example, 46,X,i(Xq)) or are mosaics with other cell lines with normal (46,XX) or abnormal sex chromosomes.1-4 Among these, patients with Y chromosomal material require specific attention since many of these 45,X/46,XY Turner syndrome patients develop gonadoblastoma or dysgerminoma later in life.5 6

Conventional chromosomal analysis indicates that 4-20% of patients with Turner syndrome have a Y chromosome or its derivatives.1-4 These figures could be even higher, since the more sensitive PCR based analysis has shown that 15-60% of cytogenetically 45,X females have Y chromosomal material.7-9 These findings mean that 10-50% of all Turner syndrome patients have Y chromosomal material and therefore are, to some extent, at risk of developing gonadoblastoma. A more precise understanding of the mechanism leading to generation of a 45,X/46,XY karyotype is therefore important for providing better care for these patients.

Karyotypes such as 45,X/46,XY are presumably caused by mitotic loss of the Y chromosome from the originally 46,XY fetus. It is not known, …

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