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
Standard
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, Jahrgang 54, Nr. 3, 08.01.2011, S. 225-30.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
Harvard
APA
Vancouver
Bibtex
}
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 -