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The dup(3)(p25 leads to pter) syndrome: a case with holoprosencephaly
American Journal of Medical Genetics
|April 1, 1983
Insights
This study describes a rare case of dup(3p) syndrome presenting with holoprosencephaly, a previously unreported anomaly. The findings highlight key genetic and clinical features of this rare chromosomal disorder.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- The duplication (dup)(3p) syndrome is a rare chromosomal abnormality.
- Previous reports have described various anomalies associated with dup(3p) syndrome.
Observation:
- A patient with dup(3p) syndrome and holoprosencephaly is presented.
- This case is compared with 17 previously reported cases identified through banding studies.
Findings:
- Holoprosencephaly is a novel finding in dup(3p) syndrome.
- Maternal balanced translocations are observed in 72% of cases.
- Affected individuals are predominantly male (78%).
- Common anomalies include facial dysmorphia, congenital heart defects, and male genital hypoplasia.
Implications:
- This report expands the phenotypic spectrum of dup(3p) syndrome.
- It underscores the importance of genetic counseling for families with balanced translocations.
- Further research is needed to understand the specific mechanisms linking dup(3p) to holoprosencephaly.
Abstract:
We report a patient with dup(3p) syndrome with holoprosencephaly. This infant is compared with 17 others reported previously with banding studies. In 72% of cases the duplication derived from a mother with a balanced translocation; 78% of affected individuals are males. The most common anomalies are characteristic facial changes, congenital heart defects, and hypoplasia of male genitalia. Holoprosencephaly has not been reported before in the dup(3p) syndrome.