1.
Hum Genet
; 45(1): 63-9, 1978 Nov 24.
Article
in English
| MEDLINE
| ID: mdl-730182
ABSTRACT
An 8-year-old girl with profound mental retardation and a neurologic syndrome associated with morphologic abnormalities was found to have a supernumerary small submetacentric chromosome. Several members of her family carried a balanced translocation t(12;18)(p12;q11), and the child's karyotype could be explained by 3:1 maternal segregation (tertiary trisomy). The proband was trisomic for 12p13 and 18p. A gene dosage effect was demonstrated for triosephosphate isomerase and glyceraldehyde-3-phosphate in erythrocytes and leukocytes allowing us to assign the corresponding loci to the tip of the chromosome 12 short arm.
Subject(s)
Carbohydrate Epimerases/genetics , Chromosomes, Human, 16-18 , Chromosomes, Human, 6-12 and X , Glyceraldehyde-3-Phosphate Dehydrogenases/genetics , Triose-Phosphate Isomerase/genetics , Trisomy , Child , Erythrocytes/enzymology , Female , Glyceraldehyde-3-Phosphate Dehydrogenases/blood , Humans , Intellectual Disability/genetics , Leukocytes/enzymology , Translocation, Genetic , Triose-Phosphate Isomerase/blood
2.
Bord Med
; 5(9): 1037-43, 1972 May.
Article
in French
| MEDLINE
| ID: mdl-5080327