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Distal deletion of chromosome 13 in a child with the "opitz" GBBB syndrome
Insights
A patient with craniofacial and genitourinary issues, developmental delay, and a chromosome 13 deletion exhibits features of Opitz GBBB syndrome. This suggests a potential gene for Opitz GBBB syndrome may be located on chromosome 13q.
Area of Science:
- Genetics
- Clinical Medicine
- Developmental Biology
Background:
- Opitz GBBB syndrome is a rare genetic disorder characterized by craniofacial, genitourinary, and central nervous system abnormalities.
- Terminal deletions of chromosome 13 are associated with a spectrum of developmental abnormalities.
Observation:
- A patient presented with multiple congenital anomalies (MCA), including craniofacial and genitourinary abnormalities, swallowing difficulties, esophageal dysfunction, hypotonia, and moderate developmental delay.
- Karyotyping revealed a terminal deletion of chromosome 13, specifically at 13q32.3qter.
- Coagulation factors VII and X, located in 13q34, were significantly reduced in the patient.
Findings:
- The observed pattern of abnormalities strongly suggests Opitz GBBB syndrome.
- The patient's presentation indicates a potential overlap or causal link between terminal 13q deletion and Opitz GBBB syndrome.
- Reduced levels of coagulation factors VII and X may be associated with the 13q deletion.
Implications:
- This case highlights the phenotypic variability associated with terminal 13q deletions.
- The findings suggest that a gene responsible for Opitz GBBB syndrome might be located on the terminal region of chromosome 13q.
- Further research is warranted to investigate the genetic basis of Opitz GBBB syndrome and its potential relationship with chromosome 13 abnormalities.
Abstract:
We describe a patient who had craniofacial and genitourinary abnormalities, swallowing difficulties, esophageal dysfunction, hypotonia and moderate developmental delay, and who also had a terminal deletion of chromosome 13 (q32.3qter). This MCA pattern strongly suggests the Opitz GBBB syndrome. The deletion of chromosome 13 was interpreted as terminal with a breakpoint at 12q32.3. Coagulation factors VII and X located in 13q34, were markedly reduced in the propositus. Although there is some clinical overlap between patients with terminal deletion of 13q and those with the Opitz GBBB syndrome, our patient manifests a whole pattern of abnormalities characteristics of the latter disorder. The concurrence of the Opitz GBBB syndrome and the chromosome abnormality in our patient could be due to chance or, be because a gene for the Opitz GBBB syndrome is located at the tip of 13q.