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VSD, hypospadias and normal psychomotor development in a patient with inv dup 8(q13-q21.2)
J C Giltay1, J A Bokma, H de France
1Clinical Genetics Center Utrecht, The Netherlands. Giltay@POBOX.RUU.NL
Insights
This study details a rare de novo inverted duplication on chromosome 8q in a child. Despite congenital anomalies, he achieved normal psychomotor development, which is uncommon for this genetic condition.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Partial duplications of chromosome 8q are rare genetic rearrangements.
- The phenotypic spectrum associated with 8q duplications can vary significantly.
- Understanding these variations is crucial for genetic counseling and patient management.
Observation:
- A male patient presented with a de novo inverted duplication of chromosome 8 (8q13-q21.2).
- Congenital anomalies included a ventricular septum defect, glandular hypospadias, and protruding ears.
- At 5.5 years, the patient exhibited normal psychomotor development.
Findings:
- The patient's normal psychomotor development contrasts with some literature reports of developmental delays in 8q duplication cases.
- This case highlights that a mild phenotype, including normal development, can occur despite significant chromosomal alterations.
- The specific breakpoint and extent of the duplication may influence developmental outcomes.
Implications:
- This case expands the known phenotypic variability of chromosome 8q partial duplications.
- It suggests that genetic testing and careful clinical evaluation are essential for characterizing such rare chromosomal abnormalities.
- Further research is needed to identify factors influencing neurodevelopmental outcomes in patients with 8q duplications.
Abstract:
This paper describes a patient with a de novo inverted duplication of chromosome 8(q13-q21.2). He was born with a ventricular septum defect, glandular hypospadias and protruding ears. At the age of 5 1/2 years he had normal psychomotor development. Review of the literature on partial duplications of 8q reveals that the associated phenotype may be mild. Normal psychomotor development, as in our patient, however appears to be uncommon.