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3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome

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3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome. / Oexle, Konrad; Hempel, Maja; Jauch, Anna; Meitinger, Thomas; Rivera-Brugués, Núria; Stengel-Rutkowski, Sabine; Strom, Tim.

In: EUR J MED GENET, Vol. 54, No. 3, 08.01.2011, p. 225-30.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Oexle, K, Hempel, M, Jauch, A, Meitinger, T, Rivera-Brugués, N, Stengel-Rutkowski, S & Strom, T 2011, '3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome', EUR J MED GENET, vol. 54, no. 3, pp. 225-30. https://doi.org/10.1016/j.ejmg.2010.12.012

APA

Oexle, K., Hempel, M., Jauch, A., Meitinger, T., Rivera-Brugués, N., Stengel-Rutkowski, S., & Strom, T. (2011). 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome. EUR J MED GENET, 54(3), 225-30. https://doi.org/10.1016/j.ejmg.2010.12.012

Vancouver

Oexle K, Hempel M, Jauch A, Meitinger T, Rivera-Brugués N, Stengel-Rutkowski S et al. 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome. EUR J MED GENET. 2011 Jan 8;54(3):225-30. https://doi.org/10.1016/j.ejmg.2010.12.012

Bibtex

@article{007b758f370849d6849b3517958dcd2b,
title = "3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome",
abstract = "In a male patient with developmental delay, autistic behaviour, obesity, lymphedema, hypertension, macrocephaly, and facial features of chromosome 5p duplication (trisomy 5p) a 3.7 Mb de novo tandem microduplication of 5p13.1-13.2 (rs4703415-rs261752, i.e., chr5:35.62-39.36 Mb) was identified. This observation contributes to the characterization and dissection of the 5p13 duplication syndrome. The possible role of increased NIPBL gene dosage is discussed.",
keywords = "Abnormalities, Multiple, Adolescent, Child, Child, Preschool, Chromosome Aberrations, Chromosome Disorders, Chromosomes, Human, Pair 5, Developmental Disabilities, Follow-Up Studies, Gene Duplication, Humans, In Situ Hybridization, Fluorescence, Infant, Lymphedema, Male, Megalencephaly, Obesity, Syndrome, Young Adult",
author = "Konrad Oexle and Maja Hempel and Anna Jauch and Thomas Meitinger and N{\'u}ria Rivera-Brugu{\'e}s and Sabine Stengel-Rutkowski and Tim Strom",
note = "Copyright {\textcopyright} 2010 Elsevier Masson SAS. All rights reserved.",
year = "2011",
month = jan,
day = "8",
doi = "10.1016/j.ejmg.2010.12.012",
language = "English",
volume = "54",
pages = "225--30",
journal = "EUR J MED GENET",
issn = "1769-7212",
publisher = "Elsevier Masson SAS",
number = "3",

}

RIS

TY - JOUR

T1 - 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome

AU - Oexle, Konrad

AU - Hempel, Maja

AU - Jauch, Anna

AU - Meitinger, Thomas

AU - Rivera-Brugués, Núria

AU - Stengel-Rutkowski, Sabine

AU - Strom, Tim

N1 - Copyright © 2010 Elsevier Masson SAS. All rights reserved.

PY - 2011/1/8

Y1 - 2011/1/8

N2 - In a male patient with developmental delay, autistic behaviour, obesity, lymphedema, hypertension, macrocephaly, and facial features of chromosome 5p duplication (trisomy 5p) a 3.7 Mb de novo tandem microduplication of 5p13.1-13.2 (rs4703415-rs261752, i.e., chr5:35.62-39.36 Mb) was identified. This observation contributes to the characterization and dissection of the 5p13 duplication syndrome. The possible role of increased NIPBL gene dosage is discussed.

AB - In a male patient with developmental delay, autistic behaviour, obesity, lymphedema, hypertension, macrocephaly, and facial features of chromosome 5p duplication (trisomy 5p) a 3.7 Mb de novo tandem microduplication of 5p13.1-13.2 (rs4703415-rs261752, i.e., chr5:35.62-39.36 Mb) was identified. This observation contributes to the characterization and dissection of the 5p13 duplication syndrome. The possible role of increased NIPBL gene dosage is discussed.

KW - Abnormalities, Multiple

KW - Adolescent

KW - Child

KW - Child, Preschool

KW - Chromosome Aberrations

KW - Chromosome Disorders

KW - Chromosomes, Human, Pair 5

KW - Developmental Disabilities

KW - Follow-Up Studies

KW - Gene Duplication

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Infant

KW - Lymphedema

KW - Male

KW - Megalencephaly

KW - Obesity

KW - Syndrome

KW - Young Adult

U2 - 10.1016/j.ejmg.2010.12.012

DO - 10.1016/j.ejmg.2010.12.012

M3 - SCORING: Journal article

C2 - 21211577

VL - 54

SP - 225

EP - 230

JO - EUR J MED GENET

JF - EUR J MED GENET

SN - 1769-7212

IS - 3

ER -