Unbalanced X; autosome translocation.
Indian J Pediatr
;
2006 Sep; 73(9): 840-2
Article
in English
| IMSEAR
| ID: sea-79640
ABSTRACT
Unbalanced X; autosome translocation can result in multiple congenital abnormalities/mental retardation syndrome due to chromosomal imbalance. Here is described a patient with developmental delay, microcephaly, agenesis of corpus callosum, spasticity, seizures and dysmorphism as a result of meiotic malsegregation of balanced X; autosome translocation in mother. Present case signifies the importance of chromosomal analysis in a patient with developmental delay/ mental retardation and discuss lyonization in cases with X; autosome translocation.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Translocation, Genetic
/
Brain
/
Female
/
Humans
/
Magnetic Resonance Imaging
/
Child Development
/
Developmental Disabilities
/
Chromosome Aberrations
/
Corpus Callosum
/
Chromosomes, Human, X
Language:
English
Journal:
Indian J Pediatr
Year:
2006
Type:
Article
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