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Partial trisomy 18q in a newborn with typical 18 trisomy phenotype
Human Genetics
|October 31, 1978
Summary
This study details a newborn with partial trisomy 18 due to an unbalanced translocation. Findings suggest a specific chromosome 18 segment (bands q11-q12) is critical for trisomy 18 characteristics.
Area of Science:
- Genetics
- Human Chromosomal Abnormalities
- Pediatric Genetics
Background:
- Trisomy 18 (Edwards syndrome) is a severe genetic disorder.
- Understanding partial trisomy 18 is crucial for diagnosing and managing related phenotypes.
Observation:
- A case report of a newborn exhibiting a classic trisomy 18 phenotype.
- The newborn presented with partial trisomy of chromosome 18's long arm.
- This resulted from a de novo unbalanced 18;21p translocation (karyotype: 46,XX,-21,t(18;21)(18qter leads to 18q11 ::21p12 leads to 21qter)).
Findings:
- A review of similar cases suggests a critical region in chromosome 18, specifically bands q11-q12.
- This critical segment appears responsible for key features of trisomy 18.
- These features include failure to thrive and increased risk of early mortality.
Implications:
- Identifies a potential critical region on chromosome 18 linked to trisomy 18 phenotypes.
- Aids in more precise genetic counseling and prognosis for partial trisomy 18.
- Contributes to understanding genotype-phenotype correlations in chromosomal disorders.