The Cytogenetic Examination as a Tool for the Diagnosis of Chromosomal Disorders

Clinically significant chromosomal abnormalities occur in about 1% of children born alive. The objective of this work was to offer the patients and the families in the community for the service of the Integrated Clinic of Uniara Health (Araraquara and region), the examination of cariotype (cytogenet...

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Autores principales:	Miziara,R. C, Marques,S. B. S, Marques,J. H. S, Rezende,C, Aquino,R, Cury Rodrigues,V, Azoubel,R
Lenguaje:	English
Publicado:	Sociedad Chilena de Anatomía 2011
Materias:	Cytogenetic studies Chromosomal abnormalities Genetic counseling
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022011000100009
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spelling	oai:scielo:S0717-950220110001000092011-09-21The Cytogenetic Examination as a Tool for the Diagnosis of Chromosomal DisordersMiziara,R. CMarques,S. B. SMarques,J. H. SRezende,CAquino,RCury Rodrigues,VAzoubel,R Cytogenetic studies Chromosomal abnormalities Genetic counseling Clinically significant chromosomal abnormalities occur in about 1% of children born alive. The objective of this work was to offer the patients and the families in the community for the service of the Integrated Clinic of Uniara Health (Araraquara and region), the examination of cariotype (cytogenetic study) for confirmation or exclusion of the diagnostic suspicion of chromosomal abnormalities as well as information (genetic counseling) for the prevention of occurrence and/or recurrence of these anomalies. In the period of one year and four months these were carried out in the Integrated Clinic of Uniara Health and directed for the Laboratory of Cytogenetic Human of the same institution in 66 cytogenetic studies. In 44 patients (66.6%) the results were normal. In 22 (33.3%) examinations, alterations were found, meaning that the respective clinical pictures are decurrent of chromosomic alterations. The first cause within alterations noted was Down syndrome with a total of 15 examinations or 68.1%, the second cause of chromosomal anomaly was the Turner syndrome where the most important factor is 45, X, where 2 karyotypes of this type or 9.1% were found, syndromes as (Eduards syndrome, Patau syndrome, 3p- syndrome, 4p- syndrome and 6p-syndrome) diagnosed in our laboratory appeared less frequently corresponding to 22.7% of the studied anomalies. The work carried out constitutes a necessary diagnosis of the main chromosomal abnormalities through a low cost technique; it can be carried out easily and is reliable, making the cytogenetic examination available to the community and contributing significantly to the quality of life of patients.info:eu-repo/semantics/openAccessSociedad Chilena de AnatomíaInternational Journal of Morphology v.29 n.1 20112011-03-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022011000100009en10.4067/S0717-95022011000100009
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	Cytogenetic studies Chromosomal abnormalities Genetic counseling
spellingShingle	Cytogenetic studies Chromosomal abnormalities Genetic counseling Miziara,R. C Marques,S. B. S Marques,J. H. S Rezende,C Aquino,R Cury Rodrigues,V Azoubel,R The Cytogenetic Examination as a Tool for the Diagnosis of Chromosomal Disorders
description	Clinically significant chromosomal abnormalities occur in about 1% of children born alive. The objective of this work was to offer the patients and the families in the community for the service of the Integrated Clinic of Uniara Health (Araraquara and region), the examination of cariotype (cytogenetic study) for confirmation or exclusion of the diagnostic suspicion of chromosomal abnormalities as well as information (genetic counseling) for the prevention of occurrence and/or recurrence of these anomalies. In the period of one year and four months these were carried out in the Integrated Clinic of Uniara Health and directed for the Laboratory of Cytogenetic Human of the same institution in 66 cytogenetic studies. In 44 patients (66.6%) the results were normal. In 22 (33.3%) examinations, alterations were found, meaning that the respective clinical pictures are decurrent of chromosomic alterations. The first cause within alterations noted was Down syndrome with a total of 15 examinations or 68.1%, the second cause of chromosomal anomaly was the Turner syndrome where the most important factor is 45, X, where 2 karyotypes of this type or 9.1% were found, syndromes as (Eduards syndrome, Patau syndrome, 3p- syndrome, 4p- syndrome and 6p-syndrome) diagnosed in our laboratory appeared less frequently corresponding to 22.7% of the studied anomalies. The work carried out constitutes a necessary diagnosis of the main chromosomal abnormalities through a low cost technique; it can be carried out easily and is reliable, making the cytogenetic examination available to the community and contributing significantly to the quality of life of patients.
author	Miziara,R. C Marques,S. B. S Marques,J. H. S Rezende,C Aquino,R Cury Rodrigues,V Azoubel,R
author_facet	Miziara,R. C Marques,S. B. S Marques,J. H. S Rezende,C Aquino,R Cury Rodrigues,V Azoubel,R
author_sort	Miziara,R. C
title	The Cytogenetic Examination as a Tool for the Diagnosis of Chromosomal Disorders
title_short	The Cytogenetic Examination as a Tool for the Diagnosis of Chromosomal Disorders
title_full	The Cytogenetic Examination as a Tool for the Diagnosis of Chromosomal Disorders
title_fullStr	The Cytogenetic Examination as a Tool for the Diagnosis of Chromosomal Disorders
title_full_unstemmed	The Cytogenetic Examination as a Tool for the Diagnosis of Chromosomal Disorders
title_sort	cytogenetic examination as a tool for the diagnosis of chromosomal disorders
publisher	Sociedad Chilena de Anatomía
publishDate	2011
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022011000100009
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The Cytogenetic Examination as a Tool for the Diagnosis of Chromosomal Disorders

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