Literature DB >> 1828633

Turner/Down mosaicism. A case report.

S Jansen1, A J Kruger, G Liebenberg.   

Abstract

A 45,X/47,XX, +21 mosaicism (80%:20%) in a young girl with clinical features of Down syndrome is reported. The proportion of 45,X:47,XX, +21 cells present in peripheral lymphocytes does not necessarily have a profound effect on the phenotype. A possible explanation for the occurrence of double aneuploidy is given.

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Year:  1991        PMID： 1828633

Source DB:  PubMed          Journal:  S Afr Med J


  3 in total

1.  Karyotype 69,XXX/47,XX,+15 in a 2 1/2 year old child.

Authors:  J Dean; G Cohen; J Kemp; L Robson; V Tembe; J Hasselaar; B Webster; A Lammi; A Smith
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

2.  Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.

Authors:  Kelly L Jones; Erin A McNamara; Mauro Longoni; Danny E Miller; Mersedeh Rohanizadegan; Laura A Newman; Frances Hayes; Lynne L Levitsky; Betty L Herrington; Angela E Lin
Journal:  Am J Med Genet A       Date:  2018-08-06       Impact factor: 2.802

Review 3.  Down-Turner syndrome: case report and review.

Authors:  G J Van Buggenhout; B C Hamel; J C Trommelen; H Mieloo; D F Smeets
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318
  3 in total

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