Literature DB >> 8320712

Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation.

C Stoll1, D Chognot, A Halb, J C Luckel.   

Abstract

Two girls with mosaicism for an extra chromosome 9 are reported. Clinical findings included growth and mental retardation, facial dysmorphism, delayed ossification, single flexion crease, gastro-oesophageal reflux in one girl, and ventricular and atrial septal defects in the other patient. These findings are compared to the other previously reported cases of trisomy 9 mosaicism.

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Year:  1993        PMID： 8320712      PMCID： PMC1016387          DOI： 10.1136/jmg.30.5.433

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  14 in total

1.  [Complete and homogenous trisomy 9 detected in utero].

Authors:  F Raffi; A Geneix; D Satge; B Fallouh; A M Brunerie; D Lemery; P Malet
Journal:  J Gynecol Obstet Biol Reprod (Paris)       Date:  1992

2.  Epidemiology of chromosome abnormalities in man.

Authors:  P A Jacobs
Journal:  Am J Epidemiol       Date:  1977-03       Impact factor: 4.897

3.  Gastrointestinal abnormalities in the syndrome of mosaic trisomy 9.

Authors:  I Levy; Y Levy; Z Mammon; M Nitzan; R Steinherz
Journal:  J Med Genet       Date:  1989-04       Impact factor: 6.318

4.  Trisomy 9 mosaicism with multiple congenital anomalies.

Authors:  R H Haslam; S P Broske; C M Moore; G H Thomas; C A Neill
Journal:  J Med Genet       Date:  1973-06       Impact factor: 6.318

5.  Trisomy 9 mosaicism in a newborn infant with multiple malformations.

Authors:  P Bowen; K L Ying; G S Chung
Journal:  J Pediatr       Date:  1974-07       Impact factor: 4.406

6.  Trisomy 9 mosaicism.

Authors:  R C Lewandowski; J J Yunis
Journal:  Clin Genet       Date:  1977-04       Impact factor: 4.438

7.  Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy.

Authors:  A Schinzel; K Hayashi; W Schmid
Journal:  Humangenetik       Date:  1974

8.  Trisomy 8: an additional case with unique manifestations [correction].

Authors:  M I de Michelena; R Sánchez; P Muñoz; E Cabello; P Rojas; E de Olazaval
Journal:  Am J Med Genet       Date:  1992-07-01

9.  Mosaic trisomy 9 syndrome with unusual phenotype.

Authors:  C P Kaminker; L Daín; M A Lamas; J M Sánchez
Journal:  Am J Med Genet       Date:  1985-10

10.  Further observations of ocular pathology in trisomy 9.

Authors:  J Ginsberg; S Soukup; R W Bendon
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1989 May-Jun       Impact factor: 1.402
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  1 in total

1.  Report of a Case with Trisomy 9 Mosaicism.

Authors:  Mohammad Miryounesi; Mehdi Dianatpour; Zahra Shadmani; Soudeh Ghafouri-Fard
Journal:  Iran J Med Sci       Date:  2016-05
  1 in total

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