Objective: The aim of this study was to investigate chromosomal abnormalities among mentally retarded children attending special classes at Antalya Guide and Research Center (MEBARAM).
Methods: One hundred and fifty-one children having different IQ and ages attending special classes of MEBARAM were screened for chromosomal abnormalities using cytogenetic techniques.
Results: The significant chromosomal abnormalities have been found as both major (3.97%) and heteromorphic (11.25%). The major chromosomal abnormalities were 46,Y, fra(X) (q27.3), 46,X, fra(X) (q27.3) with fra (3) (p14) and fra(16) (q23), 46,Y, fra(X) (p22), 46,XY, fra(8) (q22), and two cases 47.XX+21. Seventeen out of 151 children had different types of heterochromatic chromosomal abnormalities (1qh+, 10qh+, 15ph+, 16qh+, 21ph+, 22pss, Yqh+, Yqh-) and two had pericentric inversion of chromosome 9.
Conclusion: We suggest that children with learning difficulties should be screened for chromosomal abnormalities. Families with incidences of a child having fra (x) (q 27.3) and trisomy 21 chromosomal abnormalities should be quided towards prenatal diagnosis with genetic counseling.
Mental retardation Chromosome abnormalities fra (X) (q27.3) Trisomy 21 Heteromorphism
Konular | Klinik Tıp Bilimleri |
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Bölüm | Derleme |
Yazarlar | |
Yayımlanma Tarihi | 1 Ekim 1998 |
Yayımlandığı Sayı | Yıl 1998 Cilt: 11 Sayı: 4 |