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Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...

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Array-CGH study of partial trisomy 9p without mental retardation.

Inesse Ben Abdallah Bouhjar1, Hanane Hannachi, Soumaya Mougou Zerelli

  • 1Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia. inessebenabdallah@yahoo.fr

American Journal of Medical Genetics. Part A
|June 1, 2011
PubMed
Summary

Partial trisomy 9p, a common genetic anomaly, typically causes intellectual disability. However, this case highlights variability, showing a patient with typical features but normal development, challenging previous genotype-phenotype correlations.

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Area of Science:

  • Genetics
  • Human Genetics
  • Molecular Genetics

Background:

  • Partial trisomy 9p is a frequent autosomal structural anomaly with established phenotype-genotype correlations.
  • The syndrome typically presents with dysmorphic features and psychomotor/mental retardation, with the critical region for these phenotypes suggested to be in 9p22.

Observation:

  • A case study of an 8-year-old boy with partial trisomy 9p13.3→9pter is presented.
  • The patient exhibited typical trisomy 9p dysmorphic features but demonstrated normal mental development.
  • Cytogenetic analysis revealed a 47,XY,+ der(22)t(9;22)(p13.q11) karyotype, resulting from a maternal reciprocal translocation.

Findings:

  • FISH and array CGH confirmed a large duplication in 9p13.3→9pter (approx. 33.9 Mb) and a microduplication in 22q11.1 (approx. 2.67 Mb).
  • This case expands the understanding of trisomy 9p syndrome, demonstrating significant phenotypic variability.
  • The findings suggest that not all partial trisomies 9p are invariably linked to intellectual disability.

Implications:

  • This study underscores the phenotypic variability within trisomy 9p syndrome.
  • It challenges the previously defined critical region for intellectual disability in 9p22.
  • The case emphasizes the importance of considering individual genetic variations and their impact on neurodevelopmental outcomes.