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Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement
Clinical Genetics
|February 1, 1986
Insights
A boy with multiple anomalies and a t(18;22) chromosome rearrangement had an apparent absence of the thymus. This finding links chromosome 22 rearrangements to DiGeorge sequence, with a deletion limited to the short arm.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- The DiGeorge sequence is associated with chromosome 22 rearrangements.
- Understanding the genetic basis of congenital anomalies is crucial for diagnosis and treatment.
Observation:
- A case report of a male patient presenting with multiple congenital anomalies.
- The patient exhibited an unbalanced translocation, t(18;22)pat, and apparent thymic aplasia.
Findings:
- The observed t(18;22)pat chromosome rearrangement in the patient.
- A specific deletion on chromosome 22, confined to the short arm, was identified.
- This deletion is linked to the DiGeorge sequence.
Implications:
- This case expands the understanding of chromosome 22's role in DiGeorge sequence.
- Highlights the importance of cytogenetic analysis in patients with complex anomalies.
- Suggests that the location of the deletion on chromosome 22 may influence phenotype.
Abstract:
The finding of an unbalanced t(18;22)pat chromosome rearrangement in a boy with multiple anomalies including apparent absence of the thymus is described. The observation is of interest because of the reported association of chromosome 22 rearrangements with the DiGeorge sequence. In contrast to previous reports of this association, the deletion involving chromosome 22 is confined to the short arm.