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Trisomy 14 mosaicism: case report and review
American Journal of Medical Genetics
|January 1, 1979
Summary
Trisomy 14 mosaicism, a condition where cells have an extra copy of chromosome 14, can lead to multiple congenital anomalies. This case highlights shared clinical manifestations in trisomy 14 and duplication 14q syndromes.
Area of Science:
- Genetics
- Clinical Genetics
- Developmental Biology
Background:
- Trisomy 14, either complete or partial, is generally compatible with life, though complete trisomy often involves mosaicism.
- Understanding the spectrum of clinical manifestations associated with chromosomal abnormalities is crucial for diagnosis and management.
Observation:
- This report details a specific case of trisomy 14 mosaicism.
- The patient presented with multiple congenital anomalies, including microcephaly, dysmorphic facial features (broad nose, wide mouth, micrognathia), cleft palate, congenital heart disease, intrauterine growth retardation, and mental retardation.
Findings:
- The reported case of trisomy 14 mosaicism shares significant clinical features with previously documented cases of trisomy 14, trisomy 14 mosaicism, and duplication 14q.
- The phenotype is characterized by a consistent pattern of congenital anomalies and developmental delays.
Implications:
- This case contributes to the understanding of the phenotypic spectrum of trisomy 14 and related chromosomal abnormalities.
- Recognizing these shared manifestations aids in the diagnosis and genetic counseling for families affected by these conditions.