A recurrent deletion on chromosome 2q13 is associated with
developmental delay and mild facial dysmorphisms

J 2015

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms

HLADÍLKOVÁ, Eva; Tuva BARØYA; Madeleine FANNEMELA; Vladimíra VALLOVÁ; Doriana MISCEO et al.

Základní údaje

Originální název

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms

Autoři

HLADÍLKOVÁ, Eva; Tuva BARØYA; Madeleine FANNEMELA; Vladimíra VALLOVÁ; Doriana MISCEO; Vesna BRYND; Iva SLÁMOVÁ; Šárka PRÁŠILOVÁ; Petr KUGLÍK a Eirik FRENGEN

Vydání

MOLECULAR CYTOGENETICS, Londýn, BioMed Central, 2015, 1755-8166

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

Genetika a molekulární biologie

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 1.506

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14310/15:00086994

Organizační jednotka

Přírodovědecká fakulta

Klíčová slova anglicky

2q13 deletion; developmental delay; facial dysmorphism; aCGH; BCL2L11; FBLN7; TMEM87B

Štítky

AKR, rivok

Změněno: 24. 3. 2016 09:45, Ing. Andrea Mikešková

Anotace

V originále

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.

Návaznosti

EE2.3.20.0183, projekt VaV

Název: Centrum experimentální biomedicíny

Citovat

HLADÍLKOVÁ, Eva; Tuva BARØYA; Madeleine FANNEMELA; Vladimíra VALLOVÁ; Doriana MISCEO; Vesna BRYND; Iva SLÁMOVÁ; Šárka PRÁŠILOVÁ; Petr KUGLÍK a Eirik FRENGEN. A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms. MOLECULAR CYTOGENETICS. Londýn: BioMed Central, 2015, roč. 8, č. 57, s. "nestrankovano", 7 s. ISSN 1755-8166. Dostupné z: https://doi.org/10.1186/s13039-015-0157-0.

@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 = {https://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 a Eirik FRENGEN. A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms. \textit{MOLECULAR CYTOGENETICS}. Londýn: BioMed Central, 2015, roč.~8, č.~57, s.~''nestrankovano'', 7 s. ISSN~1755-8166. Dostupné z: https://doi.org/10.1186/s13039-015-0157-0.

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