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Partial monosomy 10p syndrome

J M Klep-de Pater, J B Bijlsma, F M Alkema

European Journal of Pediatrics

|October 1, 1981

Summary

This summary is machine-generated.

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.

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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.

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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.