Unbalanced X; autosome translocation.
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.
Gupta
Neerja
N
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Goel
Himanshu
H
Phadke
Shubha R
SR
D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000473:pathology; D002657:Child Development; D002869:Chromosome Aberrations; D041321:Chromosomes, Human, X; D003337:Corpus Callosum / Q000473:pathology; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008831:Microcephaly / Q000175:diagnosis; D009006:Monosomy; D014178:Translocation, Genetic; D049951:X Chromosome Inactivation