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- W2291600628 abstract "Angelman syndrome (AS) is characterized by severe mental retardation, absent speech, puppet-like move- ments, inappropriate laughter, epilepsy, and abnormal elec- troencephalogram. The majority of AS patients (= 65%) have a maternal deficiency within chromosomal region 15qll-q13, caused by maternal deletion or paternal uni- parental disomy (UPD). Approximately 35% of AS patients exhibit neither detectable deletion nor UPD, but a subset of these patients have abnormal methylation at several loci in the 15ql l-q13 interval. We describe here three pa- tients with Angelman syndrome belonging to an extended inbred family. High resolution chromosome analysis com- bined with DNA analysis using 14 marker loci from the 15ql l-q13 region failed to detect a deletion in any of the three patients. Paternal UPD of chromosome 15 was de- tected in one case, while the other two patients have ab- normal methylation at D15S9, D15S63, and SNRPN. Al- though the three patients are distantly related, the chro- mosome 15ql 1-q13 haplotypes are different, suggesting that independent mutations gave rise to AS in this family." @default.
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- W2291600628 date "1996-01-01" @default.
- W2291600628 modified "2023-09-26" @default.
- W2291600628 title "Joke BeutenRaoul C. M. Hennekam" @default.
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