Clinical genetics · 1996
Multifactorial inheritance of non-syndromic macrocephaly.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Arbour L, Watters G V, Hall J G, Fraser F C
Аннотация
OBJECTIVE: To reevaluate previous claims that non-syndromic macrocephaly is usually inherited as an autosomal dominant trait.
DESIGN: Head size was measured in the parents and sibs of children with non-syndromic macrocephaly.
OUTCOME MEASURES: If autosomal dominant inheritance is involved, the frequency distribution should be bimodal.
RESULTS: Head circumference of parents and sibs of the macrocephalic probands had a mean significantly greater than the population norm, and a unimodal distribution. Probands with psychomotor impairment had bigger heads, and more had a history of birth difficulty, than did unimpaired probands.
CONCLUSIONS: The usual genetic basis for non-syndromic macrocephaly is multifactorial with a polygenic genetic basis, rather than autosomal dominant. Risk of recurrence appears to be much lower than if it would be on the assumption of autosomal dominant inheritance. Macrocephaly in a parent or sib of an unborn child may present a risk for birth injury to that child. A larger series of patients will be necessary to resolve this question.
DESIGN: Head size was measured in the parents and sibs of children with non-syndromic macrocephaly.
OUTCOME MEASURES: If autosomal dominant inheritance is involved, the frequency distribution should be bimodal.
RESULTS: Head circumference of parents and sibs of the macrocephalic probands had a mean significantly greater than the population norm, and a unimodal distribution. Probands with psychomotor impairment had bigger heads, and more had a history of birth difficulty, than did unimpaired probands.
CONCLUSIONS: The usual genetic basis for non-syndromic macrocephaly is multifactorial with a polygenic genetic basis, rather than autosomal dominant. Risk of recurrence appears to be much lower than if it would be on the assumption of autosomal dominant inheritance. Macrocephaly in a parent or sib of an unborn child may present a risk for birth injury to that child. A larger series of patients will be necessary to resolve this question.