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Unbalanced X; autosome translocation.

Neerja Gupta1, Himanshu Goel, Shubha R Phadke

  • 1Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

Indian Journal of Pediatrics
|September 29, 2006
PubMed
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A balanced X; autosome translocation in a mother caused a child's developmental delay and congenital abnormalities due to chromosomal imbalance. This highlights the need for genetic analysis in such cases.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Unbalanced X; autosome translocations can lead to significant genetic imbalance.
  • Such imbalances are a known cause of congenital abnormalities and intellectual disability.

Observation:

  • A patient presented with developmental delay, microcephaly, agenesis of the corpus callosum, spasticity, seizures, and dysmorphism.
  • These symptoms arose from meiotic malsegregation of a balanced X; autosome translocation inherited from the mother.

Findings:

  • The case demonstrates a direct link between maternal X; autosome translocation and severe developmental issues in offspring.
  • Chromosomal analysis is crucial for diagnosing developmental delays and identifying underlying genetic causes.

Related Experiment Videos

Implications:

  • This case underscores the importance of genetic counseling and prenatal diagnosis for carriers of balanced translocations.
  • Understanding X; autosome translocation mechanisms, including lyonization, is vital for predicting and managing associated syndromes.