1.
J Med Genet
; 17(1): 59-61, 1980 Feb.
Article
in English
| MEDLINE
| ID: mdl-7365765
ABSTRACT
A case of agenesis of the corpus callosum with a chromosomal abnormality is reported. The patient was a male infant, born to phenotypically normal, non-consanguineous parents. He had an abnormal phenotype, mental retardation, and chromosome mosaicism 46,XY/47,XY,+r. Chromosomal analysis of both parents showed a normal karotype. The origin of the small ring chromosome could not be determined and it is difficult to relate the phenotype of the infant to the cytogenetic findings.
Subject(s)
Agenesis of Corpus Callosum , Chromosome Aberrations , Mosaicism , Humans , Infant , Intellectual Disability/genetics , Karyotyping , Male , Phenotype , Psychomotor Disorders/genetics , Syndrome
2.
Pathologica
; 71(1013): 406-7, 1979.
Article
in Italian
| MEDLINE
| ID: mdl-548894