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Home > Journals > Egyptian Journal of Medical Human Genetics > Full Article:
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Title: The Angelman syndrome: brief clinical & FISH report on Kuwaiti patients
Author(s): Sadika A. Al-Awadi, Maha M. Abu-Henedi, Lila Bastaki, Sawsan J. Abulhasan, Rezk A. Al-Naggar
Source: Egyptian Journal of Medical Human Genetics, 2000, Vol. 1, No. 1,, 73-82

Abstract: We describe the phenotype and the molecular cytogenetic (FISH) results of six Angelman cases to clarify their diversity and the presence of different etiological factors. Clinical assessment, conventional chromosomal study and molecular cytogenetic analysis. Six cases in 5 families showed mental retardation, absence of speech, seizures, EEG abnormalities, hypotonia and happy smiling face. Five cases showed micro-brachycephaly and abnormal gait was reported in all the cases. Two cases showed ocular abnormalities and 2 patients had mandibular prognathism. Two sisters in one family showed cerebellar atrophy. The karyotypes of the patients and their parents were normal. Fluorescence in Situ Hybridization (FISH) technique was undertaken on high resolution metaphase spreads, using four different PWS/AS probes: SNRPN, GABRB3, DlSSlO and DlSSll (Oncor). It showed del (lS(qll-13) of maternal origin in 3 cases, 2 sisters had paternal deletion of that region and the no deletion was detected in 6th case showed no deletion. These results could be in agreement with the possibility of the diversity of the etiological factors which include maternal deletion, paternal deletion, genomic imprinting, uniparental isodisomy and a recessive gene in Angelman syndrome...

Addresses: Kuwait Medical Genetic Centre..

FullText: Click Here to access the full text
Country Code: EG