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Deletion 5q35.3

R F Stratton¹, N A Tedrowe, J A Tolworthy

¹South Texas Genetics Center, San Antonio 78229.

American Journal of Medical Genetics

|June 1, 1994

Summary

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A rare de novo deletion on chromosome 5q was identified in a 15-month-old boy. This genetic finding is associated with distinct physical features and mild developmental delay.

Area of Science:

Genetics
Pediatrics
Developmental Biology

Background:

Genetic deletions, particularly those affecting chromosome 5q, can lead to complex phenotypes.
Understanding de novo mutations is crucial for diagnosing rare genetic disorders.

Observation:

A 15-month-old male presented with macrocephaly, retrognathia, anteverted nares, telecanthus, and earlobe anomalies.
Additional findings included a bell-shaped chest, diastasis recti, short fingers, and evidence of mild developmental delay.

Findings:

The patient exhibited a de novo deletion of the terminal band of chromosome 5q.
This specific genetic alteration correlated with the observed constellation of dysmorphic features and developmental delay.

Implications:

Related Experiment Videos

This case highlights the phenotypic variability associated with 5q terminal deletions.
Further research into 5q deletions can improve diagnostic accuracy and inform genetic counseling for affected families.