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Familial distal monosomy 5p15.3-pter with trisomy 12q24.2-qter resulting in neurodevelopmental delay and dysmorphic

Živilė Čiuladaitė1, Aušra Matulevičienė, Aušra Bandanskytė

  • 11Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

Journal of Child Neurology
|January 24, 2013
PubMed

Insights

Chromosomal rearrangements can cause developmental delays and brain anomalies. This study details a familial unbalanced translocation causing monosomy 5p and trisomy 12q in siblings, leading to severe intellectual disability and muscle atrophy.

Area of Science:

  • Genetics
  • Developmental Biology
  • Neurology

Background:

  • Chromosomal rearrangements are a significant cause of developmental delay, intellectual disability, and congenital anomalies.
  • Unbalanced translocations can lead to partial monosomy and partial trisomy for the involved chromosomes, resulting in complex phenotypes.

Observation:

  • A familial unbalanced translocation was identified in two half-siblings.
  • The translocation resulted in distal 5p15.3-pter monosomy and 12q24.2-qter trisomy.

Findings:

  • Affected siblings presented with cerebral dysgenesis, severe intellectual disability, and dysmorphic features.
  • Progressive muscle weakness and atrophy were also observed in the affected individuals.

Implications:

  • This case highlights the phenotypic consequences of specific chromosomal imbalances, particularly distal 5p monosomy and 12q trisomy.
  • Understanding these genetic mechanisms is crucial for accurate diagnosis, genetic counseling, and potential therapeutic strategies in affected families.

Keywords:
12q trisomy5p monosomychromosomalintrauterine growth retardationkaryotypeneurodevelopmental delay

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