Literature DB >> 8818957

A mild phenotype associated with der(9)t(3;9) (p25;p23).

R J McClure1, N Telford, S J Newell.   

Abstract

A female infant is described with hypoglycaemia, hypotonia, obesity of the trunk and thighs, and mild dysmorphic features. Growth parameters were consistently above the 90th centile. Chromosome analysis showed her to have a derived chromosome 9 inherited from a maternal t(3;9)(p25;p23) by adjacent I segregation. She had features in common with both the dup(3p) and del(9p) syndromes. There are few reports of this chromosome rearrangement and the features are milder than expected for the degree of imbalance, complicated in males by sex reversal. The repeated reports of macrosomia may suggest an overgrowth syndrome.

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Year:  1996        PMID： 8818957      PMCID： PMC1050679          DOI： 10.1136/jmg.33.7.625

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


  7 in total

1.  Mild phenotypic abnormalities in combined del 9p2 and dup 3p2.

Authors:  K Game; J M Friedman; D K Kalousek
Journal:  Am J Med Genet       Date:  1990-03

2.  Parental origin of De Novo chromosome 9 deletions in del(9p) syndrome.

Authors:  M A Micale; J M Haren; J M Conroy; C A Crowe; S Schwartz
Journal:  Am J Med Genet       Date:  1995-05-22

Review 3.  Eleven new cases of del(9p) and features from 80 cases.

Authors:  J L Huret; C Leonard; B Forestier; M O Rethoré; J Lejeune
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

4.  Double autosomal chromosomal aberration (3p trisomy/9p monosomy) and sex-reversal.

Authors:  J P Fryns; A Kleczkowska; P Casaer; H van den Berghe
Journal:  Ann Genet       Date:  1986

Review 5.  Molecular characterization of trisomic segment 3p24.1-->3pter: a case with review of the literature.

Authors:  R A Conte; J H Pitter; R S Verma
Journal:  Clin Genet       Date:  1995-07       Impact factor: 4.438

6.  Deletion 9p and sex reversal.

Authors:  C P Bennett; Z Docherty; S A Robb; P Ramani; J R Hawkins; D Grant
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

7.  The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes.

Authors:  R S Young; T Reed; M E Hodes; C G Palmer
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132
  7 in total
  3 in total

1.  Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.

Authors:  Thomas Fernandez; Thomas Morgan; Nicole Davis; Ami Klin; Ashley Morris; Anita Farhi; Richard P Lifton; Matthew W State
Journal:  Am J Hum Genet       Date:  2004-04-21       Impact factor: 11.025

2.  Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.

Authors:  Majed J Dasouki; Erin L Youngs; Karine Hovanes
Journal:  Curr Genomics       Date:  2011-05       Impact factor: 2.236

3.  Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome.

Authors:  Indraneel Banerjee; Senthil Senniappan; Thomas W Laver; Richard Caswell; Martin Zenker; Klaus Mohnike; Tim Cheetham; Matthew N Wakeling; Dunia Ismail; Belinda Lennerz; Miranda Splitt; Merih Berberoğlu; Susann Empting; Martin Wabitsch; Simone Pötzsch; Pratik Shah; Zeynep Siklar; Charles F Verge; Michael N Weedon; Sian Ellard; Khalid Hussain; Sarah E Flanagan
Journal:  Wellcome Open Res       Date:  2020-08-04
  3 in total

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