Literature DB >> 852877

Mosaic 45,x/47,xy,+18.

F Serville, D Fontan, C Laurent, J M Cazauran, P Verger.   

Abstract

A poorly developed female infant with buphthalmia, Turner phenotype, and mental retardation is described. Blood culture revealed a 45,X/47,XY,+18 chromosomal mosaicism; fibroblast culture showed only 45,X cells. The baby was dead at 11 months. Post mortem examination exhibited an ovarian agenesis and a calcified aortic stenosis.

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Year:  1977        PMID： 852877     DOI： 10.1007/BF00446288

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  1 in total

1.  Turner phenotype: mosaic 45,X-47,XY, plus 18.

Authors:  A Schinzel; W Schmid; A Prader
Journal:  J Med Genet       Date:  1974-03       Impact factor: 6.318
  1 in total
  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

3.  Aberrant melanoblast migration associated with trisomy 18 mosaicism.

Authors:  J Chemke; S Rappaport; R Etrog
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318
  3 in total

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