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Partial monosomy 10p syndrome
European Journal of Pediatrics
|October 1, 1981
Summary
A new case of chromosome 10 short arm deletion (10p deletion) in a 7-year-old girl is presented. Clinical features suggest a distinct monosomy 10p syndrome may exist.
Area of Science:
- Genetics
- Clinical Genetics
- Human Genetics
Background:
- The short arm of chromosome 10 (10p) is a critical region involved in various genetic disorders.
- Deletions in this region can lead to complex phenotypes, making precise diagnosis challenging.
Observation:
- A 7-year-old female presented with a de novo deletion on the short arm of chromosome 10 (10pter-p13).
- Clinical manifestations included intellectual disability, macrocephaly, antimongoloid slant, exophthalmos, epicanthus, ptosis, dysmorphic ears, pectus excavatum, and widely spaced nipples.
Findings:
- Comparison with five previously reported cases of 10p deletion revealed overlapping clinical features.
- The consistent pattern of anomalies supports the hypothesis of a recognizable monosomy 10p syndrome.
Implications:
- Identification of a distinct 10p deletion syndrome aids in genetic counseling and clinical management.
- Further research into the specific genes within the 10p13-pter region is warranted to understand the underlying mechanisms of this syndrome.