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Terminal deletion 6p23: a case report
M H Kormann-Bortolotto1, L M Farah, D Soares
1Departamento de Morfologia, Escola Paulista de Medicina, São Paulo, Brasil.
American Journal of Medical Genetics
|December 1, 1990
Insights
This study details a girl with multiple congenital anomalies, including cleft lip and palate. Cytogenetic analysis revealed a specific chromosome deletion, del(6)(qter----p23:), linked to her condition.
Area of Science:
- Genetics
- Pediatrics
- Clinical Medicine
Background:
- Congenital anomalies present a significant challenge in pediatrics.
- Accurate cytogenetic analysis is crucial for diagnosing complex genetic disorders.
Abstract:
We report on a girl with cleft lip and cleft palate, antimongoloid slant of the palpebral fissures, umbilical hernia, skeletal anomalies, partial syndactyly, hypertonia with increased deep tendon reflexes, psychomotor and growth retardation, and other congenital anomalies. Cytogenetic studies demonstrated a 46,XX,del(6)(qter----p23:) chromosome constitution.