[Chromosomal anomalies in children with undifferentiated forms of metal retardation based on molecular cytogenetic research data].
The results of cytogenetic diagnosis of 1333 children with mental retardation and congenital malformations are presented. Chromosomal aberrations and chromosomal variants (1qh+, 9qh+, 16qh+) have been detected in 181 (13.9%) cases analyzed and in 158 (11.85%) cases, respectively. Molecular cytogenetic methods have been used for diagnosis or detalization of diagnosis in 42 cases from 181 (23.2%). Independent variation (or polymorphism) of copies number of "classical" and alpha-satellite DNA sequences, forming pericentromeric regions (1qh+, 9qh+, 16qh+) has been detected in patients with chromosomal variants.
Vorsanova
S G
SG
Iurov
Iu B
IuB
Demidova
I A
IA
Vekhova
N V
NV
D002648:Child; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D002899:Chromosomes, Human, Pair 9; D015342:DNA Probes; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D017403:In Situ Hybridization; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D009030:Mosaicism / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics
D015342:DNA Probes
Khromosomnye anomalii u deteĭ s nedifferentsirovannymi formami umstvennoĭ ostalosti po dannym molekuliarno-tsitogeneticheskikh issledovaniĭ.