Literature DB >> 1681108

Maternal uniparental disomy for chromosome 14.

I K Temple1, A Cockwell, T Hassold, D Pettay, P Jacobs.   

Abstract

We report the first case of maternal uniparental disomy of chromosome 14 in humans. The male proband inherited a balanced 13;14 Robertsonian translocation from his mother. Molecular studies showed that neither chromosome 14 was of paternal origin. The proband is of above average intelligence, but he has hydrocephalus, a bifid uvula, premature puberty, short stature, and small testes. It is not known if the clinical findings are related or coincidental to the uniparental disomy.

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Year:  1991        PMID： 1681108      PMCID： PMC1016977          DOI： 10.1136/jmg.28.8.511

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


  14 in total

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Journal:  Am J Hum Genet       Date:  1989-09       Impact factor: 11.025

Review 3.  Report of the committee on the genetic constitution of chromosomes 14 and 15.

Authors:  D W Cox; T A Donlon
Journal:  Cytogenet Cell Genet       Date:  1989

Review 4.  Report of the committee on the genetic constitution of chromosomes 12 and 13.

Authors:  H H Ropers; I W Craig
Journal:  Cytogenet Cell Genet       Date:  1989

5.  Uniparental paternal disomy in Angelman's syndrome.

Authors:  S Malcolm; J Clayton-Smith; M Nichols; S Robb; T Webb; J A Armour; A J Jeffreys; M E Pembrey
Journal:  Lancet       Date:  1991-03-23       Impact factor: 79.321

6.  A homozygote for pericentric inversion of chromosome 4.

Authors:  N J Carpenter; B Say; N D Barber
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

7.  Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter.

Authors:  V G Kirkels; T W Hustinx; J M Scheres
Journal:  Clin Genet       Date:  1980-12       Impact factor: 4.438

8.  A new genetic concept: uniparental disomy and its potential effect, isodisomy.

Authors:  E Engel
Journal:  Am J Med Genet       Date:  1980

9.  Uniparental disomy as a mechanism for human genetic disease.

Authors:  J E Spence; R G Perciaccante; G M Greig; H F Willard; D H Ledbetter; J F Hejtmancik; M S Pollack; W E O'Brien; A L Beaudet
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

Review 10.  Chromosome maps of man and mouse. IV.

Authors:  A G Searle; J Peters; M F Lyon; J G Hall; E P Evans; J H Edwards; V J Buckle
Journal:  Ann Hum Genet       Date:  1989-05       Impact factor: 1.670
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  56 in total

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Authors:  J V Schmidt; P G Matteson; B K Jones; X J Guan; S M Tilghman
Journal:  Genes Dev       Date:  2000-08-15       Impact factor: 11.361

Review 2.  A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.

Authors:  Kikumi Ushijima; Syuichi Yatsuga; Takako Matsumoto; Akie Nakamura; Maki Fukami; Masayo Kagami
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3.  Growth parameters in maternal uniparental disomy 7 and 14.

Authors:  Dieter Kotzot
Journal:  Eur J Pediatr       Date:  2007-01-04       Impact factor: 3.183

4.  Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.

Authors:  I K Temple; V Shrubb; M Lever; H Bullman; D J G Mackay
Journal:  J Med Genet       Date:  2007-06-29       Impact factor: 6.318

5.  Gtl2lacZ, an insertional mutation on mouse chromosome 12 with parental origin-dependent phenotype.

Authors:  K Schuster-Gossler; D Simon-Chazottes; J L Guenet; J Zachgo; A Gossler
Journal:  Mamm Genome       Date:  1996-01       Impact factor: 2.957

6.  De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia.

Authors:  C P Chen; S R Chern; C C Lee; W L Chen; M H Chen; K M Chang
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

7.  Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.

Authors:  I K Temple; V Shrubb; M Lever; H Bullman; D J G Mackay
Journal:  BMJ Case Rep       Date:  2009-07-01

8.  Recurrent Trisomies: Chance or Inherited Predisposition?

Authors:  J E Ulm
Journal:  J Genet Couns       Date:  1999-04       Impact factor: 2.537

9.  Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.

Authors:  Jasmin Beygo; Miriam Elbracht; Karel de Groot; Matthias Begemann; Deniz Kanber; Konrad Platzer; Gabriele Gillessen-Kaesbach; Anne Vierzig; Andrew Green; Raoul Heller; Karin Buiting; Thomas Eggermann
Journal:  Eur J Hum Genet       Date:  2014-05-07       Impact factor: 4.246

10.  Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.

Authors:  E Rossi; G Floridia; M Casali; C Danesino; G Chiumello; F Bernardi; I Magnani; L Papi; M Mura; O Zuffardi
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318
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