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Monosomy 6q1: syndrome delineation

S S Romie¹, J K Hartsfield, M J Sutcliffe

¹Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis 46202-5251, USA.

American Journal of Medical Genetics

|March 15, 1996

Summary

This study details a rare de novo 6q1 interstitial deletion in a young girl. The patient exhibits common symptoms of 6q1 monosomy, including developmental delays and physical anomalies.

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Area of Science:

Genetics
Human Biology
Developmental Biology

Background:

Interstitial deletions of chromosome 6q are rare genetic events.
Monosomy 6q1, specifically, has been infrequently reported, making each case valuable for understanding its clinical spectrum.

Observation:

A de novo interstitial deletion in the 6q1 region of chromosome 6 was identified in a pediatric patient.
This represents the second documented case of a deletion spanning 6q11-q15.

Findings:

The patient presented with a phenotype consistent with 6q1 monosomy.
Key manifestations included intellectual disability, growth retardation, a short neck, and minor dysmorphic facial features.

Implications:

This case expands the known clinical variability of 6q1 monosomy.

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Further research into 6q deletions can refine genotype-phenotype correlations and inform genetic counseling.