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Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft

Andreas Tzschach1, Ute Grasshoff, Karin Schäferhoff

  • 1Institute of Human Genetics, University of Tuebingen, Tuebingen, Germany. andreas.tzschach@med.uni-tuebingen.de

American Journal of Medical Genetics. Part A
|May 29, 2012
PubMed

Insights

Rare interstitial deletions in chromosome 9q34.11-q34.13 can cause severe developmental issues. This report details a patient with a 3.7 Mb deletion, highlighting the need for further research into 9q34.11-q34.13 aberrations.

Area of Science:

  • Genetics
  • Human Genetics
  • Genomic Medicine

Background:

  • Interstitial deletions of chromosome bands 9q34.11-q34.13 are infrequently documented.
  • Understanding the genetic basis of complex congenital disorders is crucial for diagnosis and treatment.

Observation:

  • A 16-year-old female presented with severe intellectual disability, congenital hydrocephalus, cleft lip and palate, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, short stature, dystrophy, and facial dysmorphism.
  • Array analysis identified a 3.7 Mb interstitial deletion within the 9q34.11-q34.13 region.

Findings:

  • The identified deletion encompasses over 60 genes, including SPTAN1, DYT1/TOR1A, ABL1, ASS1, LAMC3, POMT1, DOLK, and GLE1, known to be associated with monogenic disorders.
  • This represents the first reported patient with a deletion of this specific size and location in 9q34.11-q34.13.

Implications:

  • This case underscores the phenotypic variability associated with chromosomal aberrations.
  • Further studies involving additional patients with 9q34.11-q34.13 deletions are necessary to establish robust genotype-phenotype correlations.
  • Investigating the contribution of individual genes within this deleted region will enhance our understanding of its role in congenital anomalies and neurodevelopmental disorders.

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