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Trisomy 17p due to A t(5;17) (p15;p11) pat translocation
Insights
Trisomy 17p, a genetic condition, presents a distinct set of developmental and physical features in affected infants. This case highlights key characteristics associated with this rare chromosomal abnormality.
Area of Science:
- Genetics
- Human Chromosome Abnormalities
- Pediatric Medicine
Background:
- Trisomy 17p is a rare chromosomal abnormality.
- It results from partial duplication of the short arm of chromosome 17.
- This condition can arise from parental balanced translocations, such as t(5;17)(p15;p11).
Observation:
- A 6-month-old Japanese boy with trisomy 17p, due to paternal translocation t(5;17)(p15;p11), was studied.
- Clinical evaluation revealed a consistent pattern of features across three reported cases.
- Observed features include growth retardation, microcephaly, hydrocephalus, and distinct facial characteristics.
Findings:
- Characteristic facial features include medial epicanthal folds, antimongoloid palpebral slant, broad nasal bridge, and micrognathia.
- Other findings include low-set, large ears, short webbed neck, and finger flexion deformities.
- Genital abnormalities (micropenis, undescended testes) and congenital heart defects were noted in affected males.
Implications:
- Recognition of this characteristic phenotype aids in diagnosing trisomy 17p.
- Understanding these features is crucial for genetic counseling and clinical management.
- Further research can elucidate the specific genes on chromosome 17p responsible for these clinical manifestations.
Abstract:
A 6-month-old Japanese boy with trisomy 17p, resulting from a paternal balanced translocation t(5;17)(p15;p11), is described. Comparison of his clinical features with those of two previously reported patients with trisomy 17p revealed a characteristic combination of clinical features. They included intra- and extra-uterine growth retardation, developmental retardation, microcephaly, internal hydrocephalus, a facies with lateral displacement of the inner canthi, antimongoloid slanting of the palpebral fissures, a broad nasal bridge, and micrognathism, low-set, large and simple ears, a short and webbed neck, and flexion deformities of the fingers. The external genitalia in the two male patients were characterized by a small penis, undescended testes and a hypoplastic scrotum. Congenital cardiac defect was present in two of the three patients.