[Clinico-electrophysiological characteristics of women--heterozygote carriers of fragile X chromosome].
Overall 21 women, heterozygous carriers of fragile X-chromosome (7 cases of obligate carriership and 14 sporadic cases) were examined by electroencephalography and cytogenetically. In none of them the clinical examination revealed a typical somatic appearance characteristic of Martin-Bell syndrome. Certain somatic disorders, psychasthenic traits, tearfulness and uncommunicativeness were recorded in single cases. The level of intellectual development corresponded to the low norm. Analysis of the EEG has demonstrated that in 76% of the women examined, the character of alpha-rhythm differed from normal. According to its intensity, three variants of the EEG were distinguished. In the majority of women, the EEG manifested the signs of the dysfunction of the diencephalic structures and not gross focal alterations. The character of the EEG does not provide any data which may be of diagnostic importance in revealing heterozygous carriership of fragile X-chromosome.
Lastochkina
N A
NA
Kupriianova
T A
TA
Puchinskaia
L M
LM
Marincheva
G S
GS
Gor'kova
S A
SA
D000200:Action Potentials / Q000502:physiology; D000328:Adult; D002540:Cerebral Cortex / Q000503:physiopathology*; D004569:Electroencephalography; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D007360:Intelligence; D008875:Middle Aged; D014888:Wechsler Scales; D014960:X Chromosome / Q000648:ultrastructure*
Kliniko-élektrofiziologicheskaia kharakteristika zhenshchin-- geterozigotnykh nositel'nits lomkoĭ X-khromosomy.