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The 8p-syndrome
1Pediatric Department, Centralsygehuset, Naestved.
Insights
This study details a rare 8p partial deletion in a young boy, identifying key clinical features and a distinct genetic syndrome. The findings contribute to understanding chromosome 8 abnormalities and their impact on development.
Area of Science:
- Genetics
- Pediatrics
- Developmental Biology
Background:
- Partial de novo deletions of chromosome 8p are rare genetic events.
- Understanding these deletions is crucial for diagnosing and managing associated developmental disorders.
Observation:
- A 10.5-month-old male presented with a 46,XY,del(8)(p21.3-qter:) karyotype.
- Clinical manifestations included low birth weight, growth and psychomotor retardation, microcephaly, craniofacial dysmorphism, congenital heart defect, and undescended testes.
Findings:
- The patient exhibited a spectrum of developmental abnormalities consistent with 8p deletion syndrome.
- Normal red cell glutathione reductase activity was noted.
- The child succumbed to severe tracheo-bronchitis at 2.5 years of age.
Implications:
- This case highlights a recognizable clinical entity associated with 8p partial deletions.
- Further research into 8p deletions can improve diagnostic accuracy and patient care.
- Identifying specific deletion regions may correlate with phenotypic variability.
Abstract:
A partial de novo deletion of 8p in a 10 1/2 month-old boy is described, the karyotype being 46,XY,del(8) (p21.3-qter:). Reduced birth weight, growth and psychomotor retardation, craniofacial dysmorphism with microcephaly and low set, deformed ears, stubby nose, wide set nipples, congenital heart defect and undescended testes were the main clinical findings. Death occurred at 2 1/2 years of age due to fulminant tracheo-bronchitis. Red cell glutathion reductase activity was normal. A review of previous cases with similar deletions outlines a definite clinical entity.