Literature DB >> 8733057

A boy with developmental delay and a maternally inherited deletion in 15q11q13.

M King1, C Hardy, B Asenbauer, M Kilpatrick, T Webb.   

Abstract

A boy was referred at 8 weeks of age for failure to thrive. Cytogenetic and molecular studies showed that he had a large proximal deletion of the maternally derived chromosome 15q. He did not have Angelman syndrome, but at 2 years of age was severely globally delayed. He died at 2 1/2 years of age.

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Mesh：

Year:  1996        PMID： 8733057      PMCID： PMC1050616          DOI： 10.1136/jmg.33.5.422

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


  15 in total

1.  Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

Authors:  R D Nicholls; J H Knoll; M G Butler; S Karam; M Lalande
Journal:  Nature       Date:  1989-11-16       Impact factor: 49.962

2.  Angelman syndrome.

Authors:  J Clayton-Smith; M E Pembrey
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

3.  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

4.  Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.

Authors:  D H Ledbetter; V M Riccardi; S D Airhart; R J Strobel; B S Keenan; J D Crawford
Journal:  N Engl J Med       Date:  1981-02-05       Impact factor: 91.245

5.  Interstitial 15q deletion without a classic Prader-Willi phenotype.

Authors:  F Galán; M S Aguilar; J González; F Clemente; R Sánchez; M Tapia; M Moya
Journal:  Am J Med Genet       Date:  1991-03-15

6.  Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome.

Authors:  T A Donlon; M Lalande; A Wyman; G Bruns; S A Latt
Journal:  Proc Natl Acad Sci U S A       Date:  1986-06       Impact factor: 11.205

7.  A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.

Authors:  M Litt; J A Luty
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

8.  Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

Authors:  C A Williams; R T Zori; J W Stone; B A Gray; E S Cantu; H Ostrer
Journal:  Am J Med Genet       Date:  1990-03

9.  Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.

Authors:  J H Knoll; R D Nicholls; R E Magenis; K Glatt; J M Graham; L Kaplan; M Lalande
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

10.  Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region.

Authors:  W P Robinson; M Lalande
Journal:  Hum Mol Genet       Date:  1995-05       Impact factor: 6.150
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