Chromosomal abnormalities in child psychiatric patients

Abstract

To determine the frequency of chromosomal abnormalities in a child psychiatric population, and to evaluate possible associations between types of abnormalities and patient's clinical characteristics, cytogenetic examination was performed on 604 patients. Demographic data, reasons for karyotyping, clinical signs, and other patient characteristics were assessed and correlated with the results from karyotyping. Chromosomal abnormalities were found in 69 patients (11.3%); these were structural in 49 cases and numerical in 20. Inversion of chromosome nine was found in 15 subjects, trisomy of chromosome 21 in 11, and fragile X in five patients. When karyotyping was performed because of intellectual impairment or multiple developmental delay, significantly more abnormalities were found than average; when performed because autistic disorder was suspected, the number of abnormalities was significantly fewer. There were no differences in clinical variables between structural and numerical abnormalities, nor among nine types of chromosomal abnormalities, except that numerical abnormalities and polymorphism were found at a later age, and that walking was more delayed and IQ was lower in patients with Down syndrome. Clinicians should be aware of the possible presence of chromosomal abnormalities in child psychiatric populations; the close collaboration with geneticists and the use of more defined guidelines for cytogenetic investigation are important.

Fragile X Syndrome in Korea: A Case Series and a Review of the Literature

“…Thirteen articles on FXS published in Korea since 1993 were reviewed ( 6 - 18 ) and its summary is presented in Table 2 . The positive rate of FXS was in the range of 0.77-8.51%, depending on the study groups and the method of diagnosis ( 6 , 8 , 9 , 11 , 13 - 15 , 17 ) The prevalence survey for 699 neonates showed 0.43% of premutation of FMR1 ( 16 ). There was a case report of prenatal diagnosis for the fetus from the mother of known premutation of FMR1 , which showed that the fetus had full mutation of FMR1 ( 12 ).…”

Diagnostic evaluation of developmental delay/mental retardation: An overview

“…Contribution of chromosome aberrations to DD/MR is generally said to be elevated. Chromosome abnormalities are reported in 4–34.1% of individuals with DD/MR [Bourgeois and Benezech, 1977; Kodama, 1982; Opitz et al, 1982; Rasmussen et al, 1982; Wuu et al, 1984; Gustavson, 1977b; Srsen et al, 1989; Wuu et al, 1991; Phelan et al, 1996; Felix et al, 1998; Hou et al, 1998; Battaglia et al, 1999; Hong et al, 1999; Cora et al, 2000], and cytogenetic analysis is regarded as a mainstay in the diagnostic process. However, guidelines regarding the type and resolution of the analysis to be performed and definite clinical indications for such studies are still debated.…”

Molecular studies in children with fragile X syndrome

“…Cytogenetic studies conducted by Shin on 259 children with LD, Hong, on 604 children, also proved the significance and effects of karyotyping in identifying chromosomal abnormalities. 15,16 Out of the 86 children studied cytogenetically, two showed chromosome deletions involving chromosomes 4 and chromosome 20, 2 showed translocations between chromosomes 3 and 12 and also between chromosomes 13 and 14 and another 2 showed ring chromosomes, involving chromosomes 1 0 and 15.…”