We describe six Italian families affected by microcephaly with an apparently autosomal mode of inheritance (total number of microcephalic children and adults, 21). All microcephalic subjects were of normal height, with the exception of one. The head volume was measured directly in at least one adult microcephalic member from five of the six families, and lower values were obtained in these subjects than in control subjects. Psychometric tests were performed on seven children and five adults among the microcephalic subjects. Normal values were found for all but one of the subjects. In the selected families microcephaly seems to be inherited in an autosomal dominant manner. Because some families showing autosomal dominant microcephaly have normal intelligence, psychometric evaluation of microcephalic children and their microcephalic relatives is important for genetic counseling.
Autosomal dominant microcephaly without mental retardation / L.N. Rossi, G. Candini, G. Scarlatti, G. Rossi, E. Prina, S. Alberti. - In: AMERICAN JOURNAL OF DISEASES OF CHILDREN AMA. - ISSN 0002-922X. - 141:6(1987 Jun), pp. 655-659.
|Titolo:||Autosomal dominant microcephaly without mental retardation|
ROSSI, LIVIA NICOLETTA (Primo)
|Parole Chiave:||Genes, Dominant ; Adult ; Cephalometry ; Child ; Child, Preschool ; Chromosome Aberrations ; Chromosome Disorders ; Humans ; Infant ; Intellectual Disability ; Microcephaly ; Pedigree ; Psychological Tests ; Psychometrics|
|Settore Scientifico Disciplinare:||Settore MED/38 - Pediatria Generale e Specialistica|
Settore MED/39 - Neuropsichiatria Infantile
|Data di pubblicazione:||giu-1987|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1001/archpedi.1987.04460060071037|
|Appare nelle tipologie:||01 - Articolo su periodico|