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

Indexată BDI  |  IDB Indexed

DOI - Crossref
Similarity Check by iThenticate, worldwide No 1 professional plagiarism checking system
Ebsco Host - Medline
Google Academic
Semantic Scholar


Publicarea de articole științifice

Stimați cititori, vă reamintim că autorii primi ai articolelor științifice pot acumula 80 de credite EMC în urma publicării. Dacă un articol are mai mulți autori, cele 80 de credite [...]


RJP și SRPed oferă anual Premiul Național pentru Știință și Cercetare - pentru autorii celor mai bune articole științifice publicate [...]

Plagiatul – în actualitate

Tema plagiatului este tot mai mult discutată în ultima vreme. Apariția unor programe performante de căutare și identificare a similitudinilor între texte [...]



Pattern of chromosomal anomalies detected in children with suspected genetic disorders

, , and


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

Full text | PDF

Leave a Reply