Literature DB >> 1968791

Deletion of chromosome 1p: a short review.

P J Howard1, M Porteus.   

Abstract

A further patient with a deletion of 1p is described, bringing the number of reported cases to 13. The cytogenetic derivation of the deletions and the clinical phenotype are reviewed. The range of breakpoints and small number of cases result in no clearly defined phenotype. Facial dysmorphism, clinodactyly of the fifth finger, mental retardation and heart defects are, however, most frequently described, with a high-arched palate, in particular, seen in deletions distal to p34.

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Year:  1990        PMID: 1968791     DOI: 10.1111/j.1399-0004.1990.tb03489.x

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


  6 in total

1.  Two cases of interstitial deletion 1p.

Authors:  M M Lai; M F Robards; A C Berry; C N Fear; C Hart
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

2.  De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter).

Authors:  M Yoshino; Y Watanabe; N Harada; K Abe
Journal:  J Med Genet       Date:  1991-08       Impact factor: 6.318

Review 3.  Monosomy 1p36.

Authors:  A Slavotinek; L G Shaffer; S K Shapira
Journal:  J Med Genet       Date:  1999-09       Impact factor: 6.318

4.  Developmental delay and dysmorphic features associated with a previously undescribed deletion on chromosome 1.

Authors:  J S Barton; J O'Loughlin; R T Howell; R L'e Orme
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

5.  Constitutional 1p36 deletion in a child with neuroblastoma.

Authors:  J A Biegel; P S White; H N Marshall; M Fujimori; E H Zackai; C D Scher; G M Brodeur; B S Emanuel
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

6.  A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.

Authors:  Ravinesh A Kumar; Jyotsna Sudi; Timothy D Babatz; Camille W Brune; Donald Oswald; Mayon Yen; Norma J Nowak; Edwin H Cook; Susan L Christian; William B Dobyns
Journal:  J Med Genet       Date:  2009-06-21       Impact factor: 6.318

  6 in total

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