Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10377426" target="_blank" >RIV/00216208:11130/18:10377426 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/18:10377426 RIV/00064165:_____/18:10377426
Result on the web
<a href="https://doi.org/10.1159/000488790" target="_blank" >https://doi.org/10.1159/000488790</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1159/000488790" target="_blank" >10.1159/000488790</a>
Alternative languages
Result language
angličtina
Original language name
Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers
Original language description
The prenatal finding of a small supernumerary marker chromosome (sSMC) is a challenge for genetic counseling. Our analytic algorithm is based on sSMC frequencies and multicolor FISH to accelerate the procedure. The chromosomal origin, size, and degree of mosaicism of the sSMC then determine the prognosis. We illustrate the effectiveness on 4 prenatally identified de novo mosaic sSMCs derived from chromosomes 13/21, X, 3, and 17. Three sSMC carriers had a good prognosis and apparently healthy children were born, showing no abnormality till the last examination at the age of 4 years. One case had a poor prognosis, and the parents decided to terminate the pregnancy. Our work contributes to the laboratory and clinical management of prenatally detected sSMCs. FISH is a reliable method for fast sSMC evaluation and prognosis assessment; it prevents unnecessary delays and uncertainty, allows informed decision making, and reduces unnecessary pregnancy terminations. (C) 2018 S. Barger AG, Basel.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10600 - Biological sciences
Result continuities
Project
<a href="/en/project/TA01010931" target="_blank" >TA01010931: System for FISH analysis evaluation support</a><br>
Continuities
S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Cytogenetic and Genome Research
ISSN
1424-8581
e-ISSN
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Volume of the periodical
154
Issue of the periodical within the volume
4
Country of publishing house
CH - SWITZERLAND
Number of pages
9
Pages from-to
187-195
UT code for WoS article
000440133500002
EID of the result in the Scopus database
2-s2.0-85047140597