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Related Concept Videos

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...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

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FISH for Pre-implantation Genetic Diagnosis
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Published on: February 23, 2011

Clefting in trisomy 9p patients: genotype-phenotype correlation using microarray comparative genomic hybridization.

Angie Jelin1, Hazel Perry, Jacob Hogue

  • 1Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, USA.

The Journal of Craniofacial Surgery
|September 22, 2010
PubMed
Summary

This study details a rare genetic disorder, partial trisomy 9p, in a female patient. Advanced genetic testing precisely identified the chromosomal anomaly, aiding in understanding genotype-phenotype correlations.

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Area of Science:

  • Genetics
  • Medical Genetics
  • Developmental Biology

Background:

  • Partial trisomy 9p, or Duplication 9p syndrome, is a genetic disorder characterized by specific craniofacial abnormalities, intellectual disability, and underdeveloped distal phalanges.
  • Accurate diagnosis and characterization of chromosomal abnormalities are crucial for understanding genetic disorders and their clinical manifestations.

Observation:

  • A 21-year-old female presented with microcephaly, incomplete bilateral cleft lip and palate, craniofacial and hand anomalies, a history of seizures, and global intellectual disability.
  • Initial cytogenetic analysis identified a de novo trisomy 9p.

Findings:

  • Oligonucleotide-based array comparative genomic hybridization (aCGH) revealed a precise genetic imbalance: partial trisomy 9p21.1 to 9pter and a deletion from 9p12.1 to 9p11.2.
  • This detailed genetic mapping refines the understanding of the chromosomal regions involved in this patient's condition.

Implications:

  • This case underscores the diagnostic power of aCGH in precisely characterizing complex chromosomal anomalies like partial trisomy 9p.
  • The findings support the importance of detailed genetic analysis for establishing genotype-phenotype correlations in patients with partial trisomy 9p, guiding clinical management and genetic counseling.