A DUPLICATION dup(4)(q28q35.2) DE NOVO IN A NEWBORN.
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F06%3A00003491" target="_blank" >RIV/61989592:15110/06:00003491 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
A DUPLICATION dup(4)(q28q35.2) DE NOVO IN A NEWBORN.
Original language description
We report here a case of a newborn with hypotrophy and somatic stigmatization: microcephaly, facial dysmorphism, heart defect and immunodeficiency syndrome. The proband's karyotype was 46,XY,dup(4)(q28q35.2) de novo with chromosomal breaks in 4% of metaphases. We demonstrate the usefulness of a combination of physical examination, classical cytogenetics, FISH and PCR techniques in order to establish correct diagnosis because of overlap of some clinical and cytogenetic features of Nijmegen breakage syndrome (NBS) and duplication 4q in our patient. Although FISH technique detected translocation t(14q;21q) in 4 metaphases, deletion 657del5 in exon 6 of the NBS1 gene associated with NBS in Slavic population was not confirmed. We compare in this report similarity of the clinical picture of our patient, NBS cases and other patients carrying a duplication of the distal part of 4q as described in the literature.
Czech name
De novo duplikace dup(4)(q28q35.2)u novorozenců.
Czech description
Přinášíme kazuistiku novorozeného dítěte, se somatickou stigmatiací, mikrocefalií, hypotrofií, srdečnímu defekty a syndromem imunodeficience. Novorozenec vykazoval znaky Nijmegenova breakage syndromu chromozomální instability. Byl detekován karytoyp 46,XY,dup(4)(q28q35.2), s chromozomálními zlomy u 4% metafází. Rovněž byla nalezena delece 657del5 v exonu 6 NBS1 genu.
Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Result continuities
Project
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Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2006
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Biomedical Papers
ISSN
1213-8118
e-ISSN
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Volume of the periodical
150
Issue of the periodical within the volume
1
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
4
Pages from-to
113-116
UT code for WoS article
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EID of the result in the Scopus database
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