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Cleft palate in a newborn with duplication 2(q13q23)
Sharon L Wenger1, Ona C Bleigh, Marybeth Hummel
1Department of Pathology, West Virginia University, P.O. Box 9203, Morgantown, WV 26506-9203, USA. swenger@hsc.wvu.edu
Summary
A preterm infant with a de novo duplication of chromosome 2q13q23 experienced multiple anomalies, including cleft palate and ventricular septal defect. This genetic finding highlights a potential link between 2q13 duplication and cleft palate development.
Area of Science:
- Genetics
- Clinical Genetics
- Human Genetics
Background:
- Congenital anomalies present significant challenges in neonatal care.
- Genetic factors play a crucial role in the development of birth defects.
Observation:
- A preterm male infant presented with multiple congenital anomalies, including cleft palate and ventricular septal defect.
- Karyotype analysis revealed extra material on the long arm of chromosome 2.
Findings:
- Fluorescent in situ hybridization (FISH) confirmed the extra material as chromosome 2.
- The chromosomal abnormality was identified as a de novo duplication of 2q13q23, as parental chromosomes were normal.
Implications:
- This case suggests a potential association between 2q13 duplication and the occurrence of cleft palate.
- Further research into duplications in the 2q13 region may elucidate their role in congenital anomalies.