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[Monosomy 7qter (author's transl)]

J C Lambert, R Mariani, M Donzeau

Archives Francaises De Pediatrie

|March 1, 1981

Summary

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A terminal deletion of chromosome 7's long arm was found in a male infant. This genetic condition often presents with distinct facial features, developmental delays, and physical abnormalities, though visceral issues are rare.

Area of Science:

Genetics
Developmental Biology
Clinical Medicine

Background:

Terminal deletions of the long arm of chromosome 7 (7q) are rare chromosomal abnormalities.
These deletions can lead to a spectrum of congenital anomalies and developmental issues.
Understanding the phenotypic spectrum is crucial for diagnosis and management.

Observation:

A case study of a male infant with a terminal deletion of chromosome 7 is presented, observed from birth to 6 months.
Review of 11 previously reported cases provides a broader clinical context.
The patient exhibited characteristic features associated with this deletion.

Findings:

Common features include microcephaly with brachycephaly, prominent forehead, large ears, bulbous nasal tip, overlapping toes, and genital abnormalities in males.

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Excess subcutaneous tissue was also noted.

Delayed mental and physical development is a consistent finding in affected individuals.

Implications:

This case contributes to the understanding of the terminal 7q deletion syndrome phenotype.
Early identification of these features can aid in timely intervention and support.
The relative rarity of visceral malformations suggests a focus on neurodevelopmental and physical characteristics for management.