Terminal deletion of (1)(q42) and its phenotypical manifestations
Copyright policy )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.
- University of Vienna Austria
- COUNCIL OF EUROPE - CONSEIL DE L'EUROPE France
Male, Chromosomes, Human, 1-3, Dwarfism, Phenotype, Child, Preschool, Intellectual Disability, Karyotyping, Microcephaly, Humans, Abnormalities, Multiple, Chromosome Deletion
Male, Chromosomes, Human, 1-3, Dwarfism, Phenotype, Child, Preschool, Intellectual Disability, Karyotyping, Microcephaly, Humans, Abnormalities, Multiple, Chromosome Deletion
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