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Partial trisomy 9q due to maternal 9/17 translocation
American Journal of Diseases of Children (1960)
|September 1, 1980
Summary
Partial trisomy 9q, a genetic condition, presents a distinct syndrome with psychomotor retardation and unique facial and limb features. This finding aids in understanding chromosomal abnormalities and their phenotypic expressions.
Area of Science:
- Genetics
- Clinical Genetics
- Human Genetics
Background:
- Trisomy 9 and its variations are rare chromosomal abnormalities.
- Translocations involving chromosome 9 can lead to partial trisomy.
Observation:
- A patient with partial trisomy 9q due to a 9/17 translocation was analyzed.
- Clinical data from this patient were compared with four previously reported cases.
Findings:
- A distinct clinical syndrome associated with partial trisomy 9q was delineated.
- Key features include psychomotor retardation, dolichocephaly, beaked nose, deep-seated eyes, and long digits.
- Phenotypic overlap exists with features seen in trisomy 9.
Implications:
- This delineation aids in the diagnosis and understanding of partial trisomy 9q.
- Recognizing this syndrome improves genetic counseling and clinical management for affected individuals.
- Further research into genotype-phenotype correlations in chromosome 9 abnormalities is warranted.