Clinical Review Lesson of the week

Turner's syndrome mosaicism in patients with a normal blood lymphocyte karyotype

BMJ 1999; 318 doi: http://dx.doi.org/10.1136/bmj.318.7187.856 (Published 27 March 1999) Cite this as: BMJ 1999;318:856
  1. Cristina Azcona, research fellow,
  2. Philippe Bareille, research fellow,
  3. Richard Stanhope, consultant ([email protected])
  1. Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children and Middlesex Hospital (UCLH), London WC1N 8AA
  1. Correspondence to: Dr Stanhope
  • Accepted 26 June 1998

Most doctors believe that a normal blood lymphocyte karyotype excludes the diagnosis of Turner's syndrome. However, there are patients whose dysmorphic features strongly suggest Turner's syndrome, but whose lymphocyte karyotype is normal. In the past, these patients have probably been labelled inappropriately as having Noonan's syndrome. In a girl with some of the clinical features of Turner's syndrome—growth failure,1 gonadal dysfunction, cardiovascular abnormalities, renal anomalies, a webbed or short neck, or both, cubitus valgus, and nail dysplasia, 2 3 —it is important to make an accurate diagnosis. Turner's syndrome has serious sequelae throughout life—especially with regard to hypertension, oestrogen replacement, infertility, and skeletal integrity.

Case reports

We describe four patients who had features of Turner's syndrome (see table), but whose lymphocyte karyotype was normal. All had more than just short stature. The patients in cases 1, 3, and 4 had other clinical features of Turner's syndrome, while the girl …

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