Monozygotic Twins with 17q21.31 Microdeletion Syndrome

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10293158" target="_blank" >RIV/00064203:_____/14:10293158 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/14:10293158

Výsledek na webu

<a href="http://dx.doi.org/10.1017/thg.2014.29" target="_blank" >http://dx.doi.org/10.1017/thg.2014.29</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1017/thg.2014.29" target="_blank" >10.1017/thg.2014.29</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Monozygotic Twins with 17q21.31 Microdeletion Syndrome

Popis výsledku v původním jazyce

Chromosome 17q21.31 microdeletion syndrome is a genomic disorder caused by a recurrent 600 kb long deletion. The deletion affects the region of a common inversion present in about 20% of Europeans. The inversion is associated with the H2 haplotype carrying additional low-copy repeats susceptible to non-allelic homologous recombination, and this haplotype is prone to deletion. No instances of 17q21.31 deletions inherited from an affected parent have been reported, and the deletions always affected a parental chromosome with the H2 haplotype. The syndrome is characterized clinically by intellectual disability, hypotonia, friendly behavior and specific facial dysmorphism with long face, large tubular or pear-shaped nose and bulbous nasal tip. We present monozygotic twin sisters showing the typical clinical picture of the syndrome. The phenotype of the sisters was very similar, with a slightly more severe presentation in Twin B. The 17q21.31 microdeletion was confirmed in both patients but

Název v anglickém jazyce

Monozygotic Twins with 17q21.31 Microdeletion Syndrome

Popis výsledku anglicky

Chromosome 17q21.31 microdeletion syndrome is a genomic disorder caused by a recurrent 600 kb long deletion. The deletion affects the region of a common inversion present in about 20% of Europeans. The inversion is associated with the H2 haplotype carrying additional low-copy repeats susceptible to non-allelic homologous recombination, and this haplotype is prone to deletion. No instances of 17q21.31 deletions inherited from an affected parent have been reported, and the deletions always affected a parental chromosome with the H2 haplotype. The syndrome is characterized clinically by intellectual disability, hypotonia, friendly behavior and specific facial dysmorphism with long face, large tubular or pear-shaped nose and bulbous nasal tip. We present monozygotic twin sisters showing the typical clinical picture of the syndrome. The phenotype of the sisters was very similar, with a slightly more severe presentation in Twin B. The 17q21.31 microdeletion was confirmed in both patients but

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/NT14200" target="_blank" >NT14200: Identifikace genetických defektů v rodinách pacientů s autismem</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2014

Kód důvěrnosti údajů

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

Název periodika

Twin Research and Human Genetics

ISSN

1832-4274

e-ISSN

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Svazek periodika

17

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

AU - Austrálie

Počet stran výsledku

6

Strana od-do

405-410

Kód UT WoS článku

000343964200008

EID výsledku v databázi Scopus

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