Reduced phenotypic effect on partial trisomy 1q in a X/1 translocation.
Ann Genet
; 20(3): 191-94, 1977 Sep.
Article
in En
| MEDLINE
| ID: mdl-304704
ABSTRACT
A girl with psychomotor retardation and minor physical abnormalities, had an unbalanced X/1 translocation resulting in a partial trisomy 1q and partial monosomy for Xp. The four cases of partial trisomy for the distal segment of 1q reported in the literature showed a much more severely affected phenotype. In the present case the translocated X/1 chromosome is preferentially late replicating and there is spreading of late replication to the translocated 1q segment only in a minor proportion of the cells. The possibility of a non univocous correspondence between spreading of genetic inactivation and cytological spreading of late replication is discussed.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Translocation, Genetic
/
Trisomy
/
Chromosomes, Human, 1-3
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
Language:
En
Journal:
Ann Genet
Year:
1977
Document type:
Article