Preimplantation genetic diagnosis for Duchenne muscular dystrophy (DMD) by fluoresent in situ hybridization (FISH): case report

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F06%3A00017854" target="_blank" >RIV/00216224:14310/06:00017854 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Preimplantation genetic diagnosis for Duchenne muscular dystrophy (DMD) by fluoresent in situ hybridization (FISH): case report

Original language description

Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive disorder with an incidence of approximately 1 in 3500 males, caused by mutation in the DMD gene, located on Xp21.2. About 2/3 of DMD cases are caused by gross DMD gene deletion mutations.Mutations in the DMD gene result in a progressive muscle degeneration and early death. We reported a case of a family with a occurence of DMD. By means of PCR deletion of exon 45-50 was founded at one year son with clinical proved DMD. His healthy mother was detected as carrier for this mutation. The preimplantation genetic diagnosis (PGD) was used for detection of deletion in dystrophine gene at next pregnancy. PGD is a principally new approach for the prevention of genetic disorders, which allows the selection of unaffected IVF embryos for establishing pregnancies in couples. PGD can be applied for monogenic disorders or chromozomal abnormalities using diagnostic protocols based on the PCR or fluorescence in situ hybridization. Seven em

Czech name

Preimplantační genetická diagnostika Duchennovy muskulární dystrofie - kazuistika

Czech description

Práce popisuje kazuistiku pacientky s delecí exonu 45-50, u níž byla provedena preimplantační genetická diagnostika Duchennovy muskulární dystrofie pomocí techniky FISH.

Type

D - Article in proceedings

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2006

Confidentiality

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

Article name in the collection

European Journal of Human Genetics

ISBN

1018-4813

ISSN

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e-ISSN

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Number of pages

1

Pages from-to

175

Publisher name

ESHG

Place of publication

Amsterdam

Event location

Amsterdam

Event date

Jan 1, 2006

Type of event by nationality

EUR - Evropská akce

UT code for WoS article

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