Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations (Q61497970)

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25 December 2019

title

Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations (English)

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25 December 2019

2

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Małgorzata Krajewska-Walasek

25 December 2019

5

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25 December 2019

Marie-Geneviève Mattéi

12

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25 December 2019

11

Peter M Kroisel

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25 December 2019

author name string

Cécile Mignon-Ravix

1

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25 December 2019

Judith J Luciani

3

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25 December 2019

Cristina Cuoco

4

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25 December 2019

Chantal Missirian

6

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25 December 2019

Patrick Collignon

7

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25 December 2019

Bruno Delobel

8

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25 December 2019

Marie-Françoise Croquette

9

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25 December 2019

Anne Moncla

10

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25 December 2019

publication date

31 January 2007

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European Journal of Human Genetics

25 December 2019

published in

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25 December 2019

volume

15

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25 December 2019

issue

4

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25 December 2019

page(s)

432-440

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Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

25 December 2019

cites work

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Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia.

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Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations

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Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization

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Clinical and molecular analysis of five inv dup(15) patients.

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Inv dup(15) supernumerary marker chromosomes

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Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect

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Isolation and molecular analysis of inv dup(15) and construction of a physical map of a common breakpoint in order to elucidate their mechanism of formation

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Intrachromosomal triplication of 15q11-q13.

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Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.

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Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report.

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Nonreciprocal and jumping translocations of 15q1----qter in Prader-Willi syndrome

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7 January 2021

Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes

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7 January 2021

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

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7 January 2021

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

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Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

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7 January 2021

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

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7 January 2021

Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment

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7 January 2021

A case of Prader-Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13)

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7 January 2021

De novo (15;21) unbalanced translocation of paternal origin in a girl with Prader-Willi syndrome

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7 January 2021

Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains

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7 January 2021

Poly(dA:dT), a ubiquitous promoter element that stimulates transcription via its intrinsic DNA structure.

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Distribution of olfactory receptor genes in the human genome

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7 January 2021

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

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7 January 2021

Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.

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7 January 2021

Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes

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7 January 2021

Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.

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7 January 2021

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

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7 January 2021

Structure of chromosomal duplicons and their role in mediating human genomic disorders

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7 January 2021

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.

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7 January 2021

Adjacent 2 meiotic disjunction. report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature

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7 January 2021

Deletions of proximal 15q and non-classical Prader-Willi syndrome phenotypes

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7 January 2021

Unbalanced translocation t(15;22) in "severe" Prader-Willi syndrome

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7 January 2021

Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15).

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7 January 2021

Congenital heart disease with del(15q) mosaicism

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7 January 2021

Interstitial 15q deletion without a classic Prader-Willi phenotype

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201775

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25 December 2019

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