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Partial trisomy 4q syndrome: case report and review
Human Genetics
|September 10, 1976
Summary
This study details a rare partial trisomy of chromosome 4 long arm, identifying key features like psychomotor retardation and urinary system anomalies. The findings help characterize this specific genetic syndrome.
Area of Science:
- Genetics
- Clinical Medicine
- Human Biology
Background:
- This report presents a case of partial trisomy for the long arm of chromosome 4 (46,XX,t(X;4)(Q27;Q25)).
- Family karyotyping revealed balanced translocation carriers in the mother and brother, indicating a hereditary component.
Observation:
- Clinical examination of the patient and review of 13 similar cases were conducted.
- Consistent phenotypic features included psychomotor retardation, neonatal muscle hypotonia, cryptorchidism in males, and abnormal auricles with a prominent antitragus.
Findings:
- Renal and urinary system anomalies were consistently observed, suggesting they are a hallmark of this syndrome.
- Over 200 structural anomalies across various systems were documented, with many overlapping with other autosomal chromosomal syndromes.
Implications:
- This case adds to the understanding of partial trisomy 4q, refining the associated phenotype.
- Identifying characteristic features aids in earlier diagnosis and genetic counseling for families with translocation abnormalities.