Autosomal dominant microcephaly with mental retardation
نویسندگان
چکیده
منابع مشابه
Autosomal dominant microcephaly with mental retardation.
A 3-year-old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their facial appearance is characterized by deep-set eyes, short philtrums, and a "beaked" nose. The mother and uncle live in an adult foster care facility because of mental retardation. The 3-year-old girl has a developmental quotient of 55. Mother has normal phenylalanine level and the child's chromosom...
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A large family (13 affected members in three generations) is reported in which isolated microcephaly occurred without any other dysmorphic or neurological abnormalities. The family pedigree confirms the autosomal dominant mode of inheritance with incomplete penetrance, including one example of male to male transmission and the occurrence of a non-manifesting heterozygote resulting in a 'skipped...
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The molecular basis of autosomal dominant microcephaly, a disorder associated with small head circumferences that results in variable mental retardation, is largely unknown. In the present study, we conducted a variation analysis of the DPP6 gene in patients with autosomal dominant microcephaly and variable mental retardation. The copy number variation analysis of DPP6 was performed on DNA samp...
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Cerebral palsy (CP) is defined as any nonprogressive motor deficits resulting from cerebral abnormalities that occur in the prenatal or perinatal period. Symptoms become apparent during the first year of life. Genetic forms of CP account for about 2% in European populations but are thought to cause a substantial proportion in consanguineous families. We have identified a large consanguineous fa...
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A 3-year old boy from Hatton presented with generalised convulsions. He was the third child born to consanguineous parents. The antenatal and perinatal period of this child had been normal. At 3 months of age he developed generalised convulsions and was treated with phenobarbitone at the Nawalapitiya Base Hospital. However, subtle seizures persisted at a frequency of about 1 or 2 seizures a mon...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 1989
ISSN: 0148-7299,1096-8628
DOI: 10.1002/ajmg.1320330318