Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly

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Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly. / Erdogan, F; Belloso, J M; Gabau, E; Ajbro, K D; Guitart, M; Ropers, H H; Tommerup, Niels; Ullmann, R; Tümer, Z; Larsen, Lars Allan.

I: European Journal of Medical Genetics, Bind 51, Nr. 1, 2008, s. 81-6.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Erdogan, F, Belloso, JM, Gabau, E, Ajbro, KD, Guitart, M, Ropers, HH, Tommerup, N, Ullmann, R, Tümer, Z & Larsen, LA 2008, 'Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly', European Journal of Medical Genetics, bind 51, nr. 1, s. 81-6. https://doi.org/10.1016/j.ejmg.2007.09.007

APA

Erdogan, F., Belloso, J. M., Gabau, E., Ajbro, K. D., Guitart, M., Ropers, H. H., Tommerup, N., Ullmann, R., Tümer, Z., & Larsen, L. A. (2008). Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly. European Journal of Medical Genetics, 51(1), 81-6. https://doi.org/10.1016/j.ejmg.2007.09.007

Vancouver

Erdogan F, Belloso JM, Gabau E, Ajbro KD, Guitart M, Ropers HH o.a. Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly. European Journal of Medical Genetics. 2008;51(1):81-6. https://doi.org/10.1016/j.ejmg.2007.09.007

Author

Erdogan, F ; Belloso, J M ; Gabau, E ; Ajbro, K D ; Guitart, M ; Ropers, H H ; Tommerup, Niels ; Ullmann, R ; Tümer, Z ; Larsen, Lars Allan. / Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly. I: European Journal of Medical Genetics. 2008 ; Bind 51, Nr. 1. s. 81-6.

Bibtex

@article{817cfb50e3cf11ddbf70000ea68e967b,
title = "Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly",
abstract = "In this study we report a female patient with an interstitial duplication of a region (10q22-q23) which is rarely reported in the literature. We fine mapped the aberration with array CGH, which revealed an 18.6-Mb duplication, covering 89 annotated genes, at 10q22.2-q23.33. There were no other deletions or duplications elsewhere in the genome. The main clinical features of the patient are microcephaly and congenital heart disease, which are likely to be caused by dosage effect of one or several genes in the duplicated region. Similar phenotypes have been found in other patients with 10q11-q22 duplications and in two out of three patients with 10q22-q25 duplications. However, most of the duplication cases were investigated only by conventional chromosome analyses, and fine mapping of these and other duplications of 10q22-q23 are warranted for genotype-phenotype comparisons.",
author = "F Erdogan and Belloso, {J M} and E Gabau and Ajbro, {K D} and M Guitart and Ropers, {H H} and Niels Tommerup and R Ullmann and Z T{\"u}mer and Larsen, {Lars Allan}",
note = "Keywords: Child, Preschool; Chromosome Aberrations; Chromosomes, Human, Pair 10; Female; Genes, Duplicate; Heart Defects, Congenital; Humans; Microcephaly",
year = "2008",
doi = "10.1016/j.ejmg.2007.09.007",
language = "English",
volume = "51",
pages = "81--6",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier Masson",
number = "1",

}

RIS

TY - JOUR

T1 - Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly

AU - Erdogan, F

AU - Belloso, J M

AU - Gabau, E

AU - Ajbro, K D

AU - Guitart, M

AU - Ropers, H H

AU - Tommerup, Niels

AU - Ullmann, R

AU - Tümer, Z

AU - Larsen, Lars Allan

N1 - Keywords: Child, Preschool; Chromosome Aberrations; Chromosomes, Human, Pair 10; Female; Genes, Duplicate; Heart Defects, Congenital; Humans; Microcephaly

PY - 2008

Y1 - 2008

N2 - In this study we report a female patient with an interstitial duplication of a region (10q22-q23) which is rarely reported in the literature. We fine mapped the aberration with array CGH, which revealed an 18.6-Mb duplication, covering 89 annotated genes, at 10q22.2-q23.33. There were no other deletions or duplications elsewhere in the genome. The main clinical features of the patient are microcephaly and congenital heart disease, which are likely to be caused by dosage effect of one or several genes in the duplicated region. Similar phenotypes have been found in other patients with 10q11-q22 duplications and in two out of three patients with 10q22-q25 duplications. However, most of the duplication cases were investigated only by conventional chromosome analyses, and fine mapping of these and other duplications of 10q22-q23 are warranted for genotype-phenotype comparisons.

AB - In this study we report a female patient with an interstitial duplication of a region (10q22-q23) which is rarely reported in the literature. We fine mapped the aberration with array CGH, which revealed an 18.6-Mb duplication, covering 89 annotated genes, at 10q22.2-q23.33. There were no other deletions or duplications elsewhere in the genome. The main clinical features of the patient are microcephaly and congenital heart disease, which are likely to be caused by dosage effect of one or several genes in the duplicated region. Similar phenotypes have been found in other patients with 10q11-q22 duplications and in two out of three patients with 10q22-q25 duplications. However, most of the duplication cases were investigated only by conventional chromosome analyses, and fine mapping of these and other duplications of 10q22-q23 are warranted for genotype-phenotype comparisons.

U2 - 10.1016/j.ejmg.2007.09.007

DO - 10.1016/j.ejmg.2007.09.007

M3 - Journal article

C2 - 17998172

VL - 51

SP - 81

EP - 86

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 1

ER -

ID: 9771661