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Literature DB >> 9132493

Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.

C Mignon¹, F Parente, C Stavropoulou, P Collignon, A Moncla, C Turc-Carel, M G Mattei.

Abstract

In a 15 year old girl, referred for growth retardation, conventional cytogenetic analysis detected an abnormal 15q+ chromosome with extra material in the proximal region, inherited from her father and grandfather. Using various molecular cytogenetic techniques, including comparative genomic hybridisation, we showed that the extra chromatin resulted from in situ amplification of DNA sequences located between the loci D15Z1 and D15S18. On the basis of the clinical features of our patient and the late replication of the large amplified region, we searched for functional modifications in the adjacent Prader-Willi syndrome region.

Entities: Disease Species

Mesh：

Substances：

Year: 1997 PMID： 9132493 PMCID： PMC1050896 DOI： 10.1136/jmg.34.3.217

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

39 in total

1. Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis.

Authors: J A Crolla; J F Harvey; F L Sitch; N R Dennis
Journal: Hum Genet Date: 1995-02 Impact factor: 4.132

Review 2. Inv dup(15) supernumerary marker chromosomes.

Authors: T Webb
Journal: J Med Genet Date: 1994-08 Impact factor: 6.318

3. Allele-specific replication timing of imprinted gene regions.

Authors: D Kitsberg; S Selig; M Brandeis; I Simon; I Keshet; D J Driscoll; R D Nicholls; H Cedar
Journal: Nature Date: 1993-07-29 Impact factor: 49.962

Review 4. Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.

Authors: J Clayton-Smith; T Webb; X J Cheng; M E Pembrey; S Malcolm
Journal: J Med Genet Date: 1993-06 Impact factor: 6.318

5. Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.

Authors: J Leana-Cox; L Jenkins; C G Palmer; R Plattner; L Sheppard; W L Flejter; J Zackowski; F Tsien; S Schwartz
Journal: Am J Hum Genet Date: 1994-05 Impact factor: 11.025

6. Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.

Authors: S D Cheng; N B Spinner; E H Zackai; J H Knoll
Journal: Am J Hum Genet Date: 1994-10 Impact factor: 11.025

7. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.

Authors: T Ozçelik; S Leff; W Robinson; T Donlon; M Lalande; E Sanjines; A Schinzel; U Francke
Journal: Nat Genet Date: 1992-12 Impact factor: 38.330

1. Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q.

Authors: J A Fantes; S K Mewborn; C M Lese; J Hedrick; R L Brown; V Dyomin; R S K Chaganti; S L Christian; D H Ledbetter
Journal: J Med Genet Date: 2002-03 Impact factor: 6.318

Review 2. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors: J C K Barber
Journal: J Med Genet Date: 2005-08 Impact factor: 6.318

2 in total