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

Konrad Oexle; Maja Hempel; Anna Jauch; Thomas Meitinger; Núria Rivera-Brugués; Sabine Stengel-Rutkowski; Tim Strom

doi:10.1016/j.ejmg.2010.12.012

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

Konrad Oexle, Maja Hempel, Anna Jauch, Thomas Meitinger, Núria Rivera-Brugués, Sabine Stengel-Rutkowski, Tim Strom

Medicine and Health

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20 Scopus citations

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.

Original language	English
Pages (from-to)	225-230
Number of pages	6
Journal	European Journal of Medical Genetics
Volume	54
Issue number	3
DOIs	https://doi.org/10.1016/j.ejmg.2010.12.012
State	Published - May 2011

Keywords

Autism
Dup(5p) syndrome
Low posterior hairline
Lymphedema
Mental retardation
Obesity

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.ejmg.2010.12.012

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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. European Journal of Medical Genetics, 54(3), 225-230. https://doi.org/10.1016/j.ejmg.2010.12.012

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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 = "Autism, Dup(5p) syndrome, Low posterior hairline, Lymphedema, Mental retardation, Obesity",

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 = "Funding Information: We are indebted to our patient for his permission to present his case to the scientific and medical community. The research was supported by a grant from the German Ministry for Education and Research (NGFNplus/ www.ngfn.de/englisch/15.htm , project number 01GS08163) and participated in the MRNET consortium ( http://www.german-mrnet.de/ ). The BAC clones from 5p13.2 were kindly provided by Joris Vermeesch, Center for Human Genetics, Leuven, Belgium. ",

year = "2011",

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doi = "10.1016/j.ejmg.2010.12.012",

language = "English",

volume = "54",

pages = "225--230",

journal = "European Journal of Medical Genetics",

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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', European Journal of Medical Genetics, vol. 54, no. 3, pp. 225-230. https://doi.org/10.1016/j.ejmg.2010.12.012

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 et al.
In: European Journal of Medical Genetics, Vol. 54, No. 3, 05.2011, p. 225-230.

Research output: Contribution to journal › Article › peer-review

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AU - Oexle, Konrad

AU - Hempel, Maja

AU - Jauch, Anna

AU - Meitinger, Thomas

AU - Rivera-Brugués, Núria

AU - Stengel-Rutkowski, Sabine

AU - Strom, Tim

N1 - Funding Information: We are indebted to our patient for his permission to present his case to the scientific and medical community. The research was supported by a grant from the German Ministry for Education and Research (NGFNplus/ www.ngfn.de/englisch/15.htm , project number 01GS08163) and participated in the MRNET consortium ( http://www.german-mrnet.de/ ). The BAC clones from 5p13.2 were kindly provided by Joris Vermeesch, Center for Human Genetics, Leuven, Belgium.

PY - 2011/5

Y1 - 2011/5

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.

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KW - Low posterior hairline

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JO - European Journal of Medical Genetics

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ER -

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

Keywords

UN SDGs

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