Literature DB >> 2303251

Trisomy 18 mosaicism in an adult woman with normal intelligence and history of miscarriage.

E Gersdorf1, B Utermann, G Utermann.   

Abstract

We describe a women of short stature but of normal intelligence with 10% trisomy 18 mosaicism. Minor dysmorphic signs including facial asymmetries and a slight length difference of extremities were not suggestive of a chromosomal abnormality.

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Year:  1990        PMID： 2303251     DOI： 10.1007/bf00200581

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


  4 in total

1.  Parental mosaicism in trisomy 18.

Authors:  N G Beratis; N B Kardon; L Y Hsu; D Grossman; K Hirschhorn
Journal:  Pediatrics       Date:  1972-12       Impact factor: 7.124

2.  Trisomy 18 mosaicism: clues to the diagnosis.

Authors:  H N Bass; M Fox; E Wulfsberg; R S Sparkes; B F Crandall
Journal:  Clin Genet       Date:  1982-12       Impact factor: 4.438

3.  Risk for chromosome abnormality at amniocentesis following a child with a non-inherited chromosome aberration. A European Collaborative Study on Prenatal Diagnoses 1981.

Authors:  J Stene; E Stene; M Mikkelsen
Journal:  Prenat Diagn       Date:  1984       Impact factor: 3.050

4.  Trisomy 18 mosaicism in an adult with normal intelligence.

Authors:  G Kohn; M Shohat
Journal:  Am J Med Genet       Date:  1987-04
  4 in total
  4 in total

1.  Trisomy 18 evaluated by Marion's scoring system.

Authors:  S Kavukcu; H Oren; N Cevik; T Aktug; M Sakizli
Journal:  Indian J Pediatr       Date:  1992 Jul-Aug       Impact factor: 1.967

2.  Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.

Authors:  J Jenderny; A Caliebe; C Beyer; W Grote
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

3.  The origin of abnormalities in recurrent aneuploidy/polyploidy.

Authors:  W P Robinson; D E McFadden; M D Stephenson
Journal:  Am J Hum Genet       Date:  2001-10-23       Impact factor: 11.025

Review 4.  The trisomy 18 syndrome.

Authors:  Anna Cereda; John C Carey
Journal:  Orphanet J Rare Dis       Date:  2012-10-23       Impact factor: 4.123
  4 in total

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