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Cleft palate and multiple anomalies in one of two siblings with partial 13 trisomy
The Cleft Palate Journal
|July 1, 1977
Insights
Familial partial trisomy of chromosome 13 caused multiple congenital anomalies in siblings. This genetic condition impacts recurrence risks for future pregnancies, highlighting the need for genetic counseling.
Area of Science:
- Genetics
- Human Embryology
- Medical Genetics
Background:
- Multiple congenital anomalies can arise from chromosomal abnormalities.
- Familial inheritance patterns of genetic disorders are crucial for understanding disease transmission.
- Trisomy 13, a known genetic condition, can manifest with diverse phenotypic outcomes.
Abstract:
Siblings with multiple congenital anomalies secondary to familial partial trisomy of chromosome number 13 are described. In addition to other findings, the younger child exhibited a cleft of the soft palate. The mechanism of transmission of the chromosomal abnormalities, the relationship of the physical abnormalities and the chromosome findings, and the significance of these findings in the consideration of recurrence risks in future pregnancies are discussed.