Pattern of chromosomal anomalies detected in children with suspected genetic disorders

Revista Romana de PEDIATRIE | Volumul LXI, Nr. 2, An 2012

ISSN 1454-0398 | e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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Vasilica Plăiaşu, Diana Ochiană, Gabriela Moţei and Adrian Georgescu

REZUMAT

Objectives: to analyze the types of chromosomal abnormalities in patients suspected of genetic disease and to estimate the frequency of chromosome aberrations detected in selected children and the comparison of the obtained results with other similar studies.

Material and methods: chromosome analysis was performed on 592 patients of pediatric age, selected in the Clinical Genetics Department of IOMC „Prof. Dr. Alfred Rusescu” during an interval of 4 years, 2007-2010, using as selection criteria the following features: pre/postnatal growth retardation, facial dysmorphism, multiple congenital anomalies, mental retardation.

Results: various types of chromosomal aberrations had been identified; out of the 321 cases diagnosed with some chromosomal anomalies, 285 cases (88.79%) had numerical anomalies, trisomy 21 representing the most common genetic abnormality, followed by Patau and Edwards syndromes, and 36 cases (11,21%) had structural chromosomal anomalies.

Conclusions: cytogenetic analysis is useful for investigation of children with genetic diseases of unknown cause in order to confirm the clinical diagnosis and provide genetic counseling.

Key words: cytogenetics, chromosomal syndromes, autosomes, gonosomes, diagnosis, genetic counseling

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