Literature DB >> 7418250

Trisomy 18q-. Trisomy mapping of chromosome 18 revisited.

C Turleau, F Chavin-Colin, R Narbouton, D Asensi, J de Grouchy.   

Abstract

Two patients with trisomy for 18p and the proximal segment of 18q (trisomy 18q-) are reported and compared with similar cases from the literature. The phenotype of trisomy 18q- resembles that of full trisomy 18 but differs mainly in the birdlike face, small mouth, more pronounced microretrognathia, minor skeletal dysplasia and inner organ malformations, and less sever vital prognosis.

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Mesh：

Year:  1980        PMID： 7418250     DOI： 10.1111/j.1399-0004.1980.tb01359.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 in total

1.  Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings.

Authors:  D Beneck; M A Greco; S R Wolman; L E McMorrow; V Jansen; J Cason
Journal:  J Med Genet       Date:  1986-06       Impact factor: 6.318

2.  Monosomy 18p and pure trisomy 18p in a family with translocation (7;18).

Authors:  M Habedank; G Trost-Brinkhues
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318

3.  Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.

Authors:  L Boghosian-Sell; R Mewar; W Harrison; R M Shapiro; E H Zackai; J Carey; L Davis-Keppen; L Hudgins; J Overhauser
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025

4.  The crucial band for phenotype of trisomy 18.

Authors:  J Mücke; U Trautmann; K R Sandig; H Theile
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

Review 5.  Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18.

Authors:  R Mewar; A D Kline; W Harrison; K Rojas; F Greenberg; J Overhauser
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

6.  Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil.

Authors:  Rodrigo Roncato Pereira; Irene Plaza Pinto; Lysa Bernardes Minasi; Aldaires Vieira de Melo; Damiana Mirian da Cruz e Cunha; Alex Silva Cruz; Cristiano Luiz Ribeiro; Cláudio Carlos da Silva; Daniela de Melo e Silva; Aparecido Divino da Cruz
Journal:  PLoS One       Date:  2014-07-25       Impact factor: 3.240
  6 in total

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