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Deletion (2)(q37)

R F Stratton¹, J A Tolworthy, R S Young

¹South Texas Genetics Center, San Antonio, Texas 78229.

American Journal of Medical Genetics

|June 1, 1994

Summary

This summary is machine-generated.

A rare genetic condition, 2q37 deletion syndrome, was identified in a 5-month-old girl. This diagnosis was confirmed through chromosome analysis, revealing a deletion on the long arm of chromosome 2.

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Area of Science:

Genetics
Human Molecular Genetics
Clinical Genetics

Background:

Ullrich-Turner syndrome is a genetic disorder that affects females.
Terminal deletions of chromosome 2, specifically 2q37, are rare genetic abnormalities.
Accurate diagnosis of genetic syndromes is crucial for appropriate management and genetic counseling.

Observation:

A 5-month-old female infant presented with multiple congenital anomalies including widely spaced nipples, redundant nuchal skin, coarctation of the aorta, anal atresia with a distal fistula, postnatal growth retardation, hypotonia, and sparse scalp hair.
Initial clinical suspicion pointed towards Ullrich-Turner syndrome based on the presented phenotype.
Karyotype analysis of peripheral lymphocytes revealed a 46,XX,del(2)(q37) karyotype.

Findings:

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The patient's phenotype was consistent with a terminal deletion of 2q.
The identified karyotype, 46,XX,del(2)(q37), confirms the diagnosis of 2q37 deletion syndrome.
Comparison with previously reported cases of 2q terminal deletions aids in understanding the spectrum of this condition.

Implications:

This case highlights the importance of comprehensive genetic analysis in diagnosing complex congenital anomalies.
Understanding the phenotypic variability associated with 2q37 deletions can improve clinical recognition and management.
Further research into the specific genes located at 2q37 and their roles in development is warranted.