Autosomal dominant isolated ('uncomplicated') microcephaly.
نویسندگان
چکیده
منابع مشابه
Autosomal dominant isolated ('uncomplicated') microcephaly.
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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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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family studies suggest that there is a strong genetic component to the etiology of comitant strabismus. seven cases of a family in three consecutive generations found to have isolated comitant exotropia. this pattern of inheritance is highly suggestive of an autosomal-dominant mode with complete penetrance which is an unreported finding in this entity. iranian journal of ophthalmology 200921(...
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We describe a family segregating an autosomal dominant mutation producing a syndrome comprising microcephaly with normal intelligence and short palpebral fissures together with variable signs including thumb hypoplasia, shortness of the middle phalanges of the second and fifth fingers, small feet, a gap between the first and second toes, and mild syndactyly of the toes or fingers. A characteris...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1988
ISSN: 1468-6244
DOI: 10.1136/jmg.25.11.750