| HLADÍLKOVÁ, Eva, Tuva BARØYA, Madeleine FANNEMELA, Vladimíra VALLOVÁ, Doriana MISCEO, Vesna BRYND, Iva SLÁMOVÁ, Šárka PRÁŠILOVÁ, Petr KUGLÍK and Eirik FRENGEN. A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms. MOLECULAR CYTOGENETICS. Londýn: BioMed Central, 2015, vol. 8, No 57, p. "nestrankovano", 7 pp. ISSN 1755-8166. Available from: https://dx.doi.org/10.1186/s13039-015-0157-0. |
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@article{1339249,
author = {Hladílková, Eva and Barøya, Tuva and Fannemela, Madeleine and Vallová, Vladimíra and Misceo, Doriana and Brynd, Vesna and Slámová, Iva and Prášilová, Šárka and Kuglík, Petr and Frengen, Eirik},
article_location = {Londýn},
article_number = {57},
doi = {http://dx.doi.org/10.1186/s13039-015-0157-0},
keywords = {2q13 deletion; developmental delay; facial dysmorphism; aCGH; BCL2L11; FBLN7; TMEM87B},
language = {eng},
issn = {1755-8166},
journal = {MOLECULAR CYTOGENETICS},
title = {A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms},
volume = {8},
year = {2015}
}
TY - JOUR
ID - 1339249
AU - Hladílková, Eva - Barøya, Tuva - Fannemela, Madeleine - Vallová, Vladimíra - Misceo, Doriana - Brynd, Vesna - Slámová, Iva - Prášilová, Šárka - Kuglík, Petr - Frengen, Eirik
PY - 2015
TI - A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms
JF - MOLECULAR CYTOGENETICS
VL - 8
IS - 57
SP - "nestrankovano"
EP - "nestrankovano"
PB - BioMed Central
SN - 17558166
KW - 2q13 deletion
KW - developmental delay
KW - facial dysmorphism
KW - aCGH
KW - BCL2L11
KW - FBLN7
KW - TMEM87B
N2 - We report two unrelated patients with overlapping 2q13 deletions (patient 1 in chr2:111415137-113194067 bp and patient 2 in chr2:110980342-113007823 bp, hg 19). Patient 1 presents with developmental delay, microcephaly and mild dysmorphic facial features, and patient 2 with autism spectrum disorder, borderline cognitive abilities, deficits in attention and executive functions and mild dysmorphic facial features. The mother and maternal grandmother of patient 1 were healthy carriers of the deletion. Previously, 2q13 deletions were reported in 27 patients, and the interpretation of its clinical significance varied. Our findings support that the 2q13 deletion is associated with a developmental delay syndrome manifesting with variable expressivity and reduced penetrance which poses a challenge for genetic counselling as well as the clinical recognition of 2q13 deletion patients.
ER -
HLADÍLKOVÁ, Eva, Tuva BARØYA, Madeleine FANNEMELA, Vladimíra VALLOVÁ, Doriana MISCEO, Vesna BRYND, Iva SLÁMOVÁ, Šárka PRÁŠILOVÁ, Petr KUGLÍK and Eirik FRENGEN. A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms. \textit{MOLECULAR CYTOGENETICS}. Londýn: BioMed Central, 2015, vol.~8, No~57, p.~''nestrankovano'', 7 pp. ISSN~1755-8166. Available from: https://dx.doi.org/10.1186/s13039-015-0157-0.
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