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Familial Turner syndrome |
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| Authors: | M-R. Verschraegen-Spae H. Dapypare F. Spalaman M. Dhondt A. Da Paepe |
| Affiliation: | Faculty Centre for Medical Genetics, University Hospital Gent, Belgium. |
| Abstract: | A 28-year-old Turner female with secondary amenorrhea is described, who showed 45,X/46,X,del(Xp) mosaicism in her blood lymphocytes and a 46,X,del(Xp) karyotype only in her ovaries. 45,X/46,XX mosaicism was found in the patient's mother, who presented short stature, mild Turner dysmorphism and had a normal reproductive life-span. Phenotypic implications of the cytogenetic findings in the patients are discussed, and literature data on fertility in Turner syndrome are briefly reviewed. |
| Keywords: | chromosomal mosaicism familial Turner syndrome |