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["De novo" partial trisomy 16p (author's transl)]
Anales Espanoles De Pediatria
|December 1, 1981
Summary
A male infant with congenital anomalies and intellectual disability was found to have partial trisomy 16p. This rare genetic condition, trisomy 16p, presents a distinct phenotype, with this case being the first reported in a male.
Area of Science:
- Genetics
- Human Chromosome Abnormalities
- Clinical Genetics
Background:
- Partial trisomy of chromosome 16 (trisomy 16p) is a rare chromosomal abnormality.
- Few cases have been reported, with limited understanding of its specific phenotypic manifestations.
- Genetic analysis is crucial for diagnosing and characterizing chromosomal disorders.
Observation:
- A six-month-old male infant presented with multiple congenital anomalies and severe mental retardation.
- GTG banding revealed partial trisomy of chromosome 16, specifically trisomic for 16q1100 to pter.
- This represents a "de novo" mutation, meaning it occurred spontaneously.
Findings:
- The patient's clinical presentation aligns with previously reported cases of partial trisomy 16p.
- This case is the first reported instance of trisomy 16p in a liveborn male with genital anomalies.
- The study contributes to defining the phenotypical outline associated with trisomy 16p.
Implications:
- This finding helps to delineate a specific phenotypical profile for trisomy 16p.
- It underscores the importance of cytogenetic analysis in cases of unexplained congenital anomalies and developmental delay.
- The report expands the known spectrum of trisomy 16p, particularly in males.