Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.
Eur J Hum Genet
; 5(2): 105-9, 1997.
Article
in En
| MEDLINE
| ID: mdl-9195162
ABSTRACT
Balanced chromosomal abnormalities such as translocations and inversions have been identified in many genetic diseases. Cloning of the breakpoints involved in these abnormalities has led to the identification of the disease-related genes. Recent reports suggest the presence of a mental retardation locus at Xq11-12. We have identified a female patient with a balanced translocation t (X;12) (q11;q15) associated with mild mental retardation. We identified a yeast artificial chromosome spanning the X-chromosome breakpoint by using fluorescent in situ hybridization techniques. A cosmid library of this YAC has been constructed and the search for candidate genes is in progress.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Translocation, Genetic
/
X Chromosome
/
Chromosomes, Human, Pair 12
/
Intellectual Disability
Type of study:
Prognostic_studies
Limits:
Child
/
Female
/
Humans
/
Male
Language:
En
Journal:
Eur J Hum Genet
Journal subject:
GENETICA MEDICA
Year:
1997
Document type:
Article