Terminal deletion of (1)(q42) and its phenotypical manifestations.
A 5-year-old male with multiple malformations (dwarfism, microcephalia with brachycephalic shape of skull, mongoloid lid axis, epicanthus, convergent strabismus, flat root of the nose, micrognathia, missing uvula, deformed low-set ears, hypoplastic genitals, and general hypotonia), severe mental retardation, and cerebral paroxysms caused by a partial monosomy (1)(q42 leads to qter) is described. This case is compared with other cases with a partial monosomy or ring-1 chromosomes.
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002900:Chromosomes, Human, 1-3; D004392:Dwarfism / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010641:Phenotype