Chromosomal abnormalities in 457 Turkish patients with MCA/MR.
Turk J Pediatr
; 48(2): 130-4, 2006.
Article
em En
| MEDLINE
| ID: mdl-16848112
ABSTRACT
The evaluation of multiple congenital abnormalities and/or mental retardation (MCA/MR) is always a challenge to clinicians. The recognition of specific physical or behavioral characteristics can vastly improve diagnostic yield. Chromosomal abnormalities account for a high percentage in the etiology of MCA/MR. In this study, frequency of chromosomal abnormalities was 4.81% of 457 patients. Chromosomal abnormalities and polymorphisms were detected in 65 (14.21%) (structural and numerical chromosomal abnormalities in 22 patients and polymorphisms in 43) of 457 MR and/or MCA patients. Our results show that chromosomal abnormalities contribute much to the causation of multiple malformations and/or MR. It is essential that fluorescence in situ hybridization (FISH) be used in conjunction with standard methods in order to maximize obtainable information for better management of patients with MR and/or MCA.
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Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
/
Anormalidades Múltiplas
/
Aberrações Cromossômicas
/
Deficiência Intelectual
Tipo de estudo:
Incidence_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article