Literature DB >> 437778

Partial trisomy 18q12, due to intrachromosomal duplication, is not associated with typical 18 trisomy phenotype.

J P Fryns, L Vinken, J Marien, H Van den Berghe.   

Abstract

Partial 18q12 trisomy, due to intrachromosomal duplication, was found in a severely mentally retarded boy. The finding of nonspecific dysmorphism in this patient demonstrates that trisomy of band 18q12 is accompanied by neither a full nor an incomplete 18 trisomy phenotype, indicating that this phenotype may be due solely to trisomy of the 18q11 band.

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Mesh：

Year:  1979        PMID： 437778     DOI： 10.1007/bf00273319

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


  6 in total

1.  Trisomy 18qter and trisomy mapping of chromosome 18.

Authors:  C Turleau; J de Grouchy
Journal:  Clin Genet       Date:  1977-12       Impact factor: 4.438

2.  Inclusion of satellites in an 18/21 translocation chromosome shown by ammonical-silver staining (sat-banding) in case of partial trisomy 18.

Authors:  R L Neu; C C Ortega; G A Barg; W Pinto; L I Gardner; W M Howell; T E Denton
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

3.  Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation.

Authors:  K Fried; A Bar-Yochai; M Rosenblatt; G Mundel
Journal:  J Med Genet       Date:  1978-02       Impact factor: 6.318

4.  Partial trisomy 18q in a newborn with typical 18 trisomy phenotype.

Authors:  J P Fryns; F Detavernier; A van Fleteren; H van den Berghe
Journal:  Hum Genet       Date:  1978-10-31       Impact factor: 4.132

5.  Pseudohermaphroditism with clinical features of trisomy 19 in an infant trisomic for parts of chromosomes 16 and 18: 47,XY,der(18),t(16;18)(p12;q11)mat.

Authors:  L M Stern; A R Mureh
Journal:  J Med Genet       Date:  1975-09       Impact factor: 6.318

6.  Clinical experience with trisomies 18 and 13.

Authors:  M E Hodes; J Cole; C G Palmer; T Reed
Journal:  J Med Genet       Date:  1978-02       Impact factor: 6.318
  6 in total
  3 in total

Review 1.  Partial trisomy 18q.

Authors:  M Elbistan; S Kucukoduk; N Kara
Journal:  Indian J Pediatr       Date:  1996 May-Jun       Impact factor: 1.967

2.  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

Review 3.  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
  3 in total

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