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

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F15%3A00086994" target="_blank" >RIV/00216224:14310/15:00086994 - isvavai.cz</a>

Výsledek na webu

<a href="http://dx.doi.org/10.1186/s13039-015-0157-0" target="_blank" >http://dx.doi.org/10.1186/s13039-015-0157-0</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/s13039-015-0157-0" target="_blank" >10.1186/s13039-015-0157-0</a>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

<a href="/cs/project/EE2.3.20.0183" target="_blank" >EE2.3.20.0183: Centrum experimentální biomedicíny</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach

Rok uplatnění

2015

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

MOLECULAR CYTOGENETICS

ISSN

1755-8166

e-ISSN

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Svazek periodika

8

Číslo periodika v rámci svazku

57

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

7

Strana od-do

"nestrankovano"

Kód UT WoS článku

000358831000001

EID výsledku v databázi Scopus

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