The Importance of Classical and Molecular Cytogenetics in the Diagnosis of Microdeletions Microduplications Syndromes

Popa, Cristina Annemarie; Puiu, Maria; Andreescu, Nicoleta Ioana; Popa, Daniel; Puenea, George; Hut, Emil Florin; Arghirescu, Smaranda Teodora

Cristina Annemarie Popa, Maria Puiu, Nicoleta Ioana Andreescu, Daniel Popa, George Puenea, Emil Florin Hut, Smaranda Teodora Arghirescu

The Importance of Classical and Molecular Cytogenetics in the Diagnosis of Microdeletions Microduplications Syndromes

Abstract:

Microdeletions and microduplications syndromes are a well defined group of disorders characterized by loss/ addition of less than 5 Mb of genetic material undetectable by simple karyotype and a particular phenotype. Our study presents the results of investigations of classical and molecular cytogenetic (FISH, Fluorescence in situ Hibridization) in 70 children showing different phenotypic manifestations, such as multiple congenital anomalies, dysmorphic appearance, mental retardation, obesity. After performing classical cytogenetic technique of the 70 cases, in four girls there were diagnosed two visible structural chromosomal abnormalities: DiGeorge syndrome, Distal 18q Deletion syndrome, 15q Duplication syndrome, izocromosome Xq and one boy with 11q24-qter deletion and 38 numerical aberrations were identified: 33 cases of trisomy 21, two cases of monosomy X, two cases of poly Y syndrome and one double aneuploidy, trisomy 21 and poly Y. Using FISH (Fluorescence in situ Hibridization) technique in all the 32 cases, another 5 cases were diagnosed with Prader-Willi syndrome, one with the following: Angelman syndrome, Williams syndrome and 15q Duplication Syndrome, two DiGeorge syndrome, one Jacobsen syndrome, 11q 23-qter deletion and one double aneuploidy. In our study, the efficacy of the classical cytogenetic technique in confirmation of the cases suspected by chromosome abnormality was 61.4% and the FISH technique, was 37,5%.In our study, using both methods of diagnosis, we obtained confirmation of the genetic etiology in only 72.85% of the cases.

Keywords:
cytogenetic; FISH; microdeletions; microduplications

Issue: 2020, Volume 71, Issue 5

Pages: 373-379

Publication date: 2020/5/29

https://doi.org/10.37358/RC.20.5.8147

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This article is published under the Creative Commons Attribution 4.0 International License

Citation Styles

Cite this article as:
POPA, C.A., PUIU, M., ANDREESCU, N.I., POPA, D., PUENEA, G., HUT, E.F., ARGHIRESCU, S.T., The Importance of Classical and Molecular Cytogenetics in the Diagnosis of Microdeletions Microduplications Syndromes, Rev. Chim., 71(5), 2020, 373-379.

Vancouver
Popa CA, Puiu M, Andreescu NI, Popa D, Puenea G, Hut EF, Arghirescu ST. The Importance of Classical and Molecular Cytogenetics in the Diagnosis of Microdeletions Microduplications Syndromes. Rev. Chim.[internet]. 2020 May;71(5):373-379. Available from: https://doi.org/10.37358/RC.20.5.8147

APA 6th edition
Popa, C.A., Puiu, M., Andreescu, N.I., Popa, D., Puenea, G., Hut, E.F. & Arghirescu, S.T. (2020). The Importance of Classical and Molecular Cytogenetics in the Diagnosis of Microdeletions Microduplications Syndromes. Revista de Chimie, 71(5), 373-379. https://doi.org/10.37358/RC.20.5.8147

Harvard
Popa, C.A., Puiu, M., Andreescu, N.I., Popa, D., Puenea, G., Hut, E.F., Arghirescu, S.T. (2020). 'The Importance of Classical and Molecular Cytogenetics in the Diagnosis of Microdeletions Microduplications Syndromes', Revista de Chimie, 71(5), pp. 373-379. https://doi.org/10.37358/RC.20.5.8147

IEEE
C.A. Popa, M. Puiu, N.I. Andreescu, D. Popa, G. Puenea, E.F. Hut, S.T. Arghirescu, "The Importance of Classical and Molecular Cytogenetics in the Diagnosis of Microdeletions Microduplications Syndromes". Revista de Chimie, vol. 71, no. 5, pp. 373-379, 2020. [online]. https://doi.org/10.37358/RC.20.5.8147

Text
Cristina Annemarie Popa, Maria Puiu, Nicoleta Ioana Andreescu, Daniel Popa, George Puenea, Emil Florin Hut, Smaranda Teodora Arghirescu,
The Importance of Classical and Molecular Cytogenetics in the Diagnosis of Microdeletions Microduplications Syndromes,
Revista de Chimie,
Volume 71, Issue 5,
2020,
Pages 373-379,
ISSN 2668-8212,
https://doi.org/10.37358/RC.20.5.8147.
(https://revistadechimie.ro/Articles.asp?ID=8147)
Keywords: cytogenetic; FISH; microdeletions; microduplications

RIS
TY - JOUR
T1 - The Importance of Classical and Molecular Cytogenetics in the Diagnosis of Microdeletions Microduplications Syndromes
A1 - Popa, Cristina Annemarie
A2 - Puiu, Maria
A3 - Andreescu, Nicoleta Ioana
A4 - Popa, Daniel
A5 - Puenea, George
A6 - Hut, Emil Florin
A7 - Arghirescu, Smaranda Teodora
JF - Revista de Chimie
JO - Rev. Chim.
PB - Revista de Chimie SRL
SN - 2668-8212
Y1 - 2020
VL - 71
IS - 5
SP - 373
EP - 379
UR - https://doi.org/10.37358/RC.20.5.8147
KW - cytogenetic
KW - FISH
KW - microdeletions
KW - microduplications
ER -

BibTex
@article{RevCh2020P373,
author = {Popa Cristina Annemarie and Puiu Maria and Andreescu Nicoleta Ioana and Popa Daniel and Puenea George and Hut Emil Florin and Arghirescu Smaranda Teodora},
title = {The Importance of Classical and Molecular Cytogenetics in the Diagnosis of Microdeletions Microduplications Syndromes},
journal = {Revista de Chimie},
volume = {71},
number = {5},
pages = {373-379},
year = {2020},
issn = {2668-8212},
doi = {https://doi.org/10.37358/RC.20.5.8147},
url = {https://revistadechimie.ro/Articles.asp?ID=8147}
}

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