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Familial translocation 5;14 resulting in an unbalanced offspring
J P Park1, M J Edwards, J B Moeschler
1Department of Pathology, Dartmouth-Hitchcock Medical Center, Hanover, NH 03756.
Insights
This study details a rare infant case with multiple congenital anomalies due to an extra derivative 14 chromosome. The findings link chromosomal abnormalities to severe developmental and physical impairments.
Area of Science:
- Genetics
- Pediatrics
- Developmental Biology
Background:
- Familial translocations can lead to unbalanced chromosomal complements in offspring.
- Congenital anomalies arise from genetic and environmental factors impacting fetal development.
- Derivative chromosomes, such as t(5;14), can result in complex genetic imbalances.
Abstract:
We report on an infant with multiple congenital anomalies possessing a derivative 14 chromosome in excess of the normal complement, resulting from transmission of a familial t(5;14)(p13;q22). The proposita's phenotypically normal mother, mentally retarded half-brother, and fetal sib are carriers of the apparently balanced translocation. Previous cases of similar familial t(5;14) are reviewed. The proposita's phenotype is characterized by failure to thrive, developmental retardation, cleft palate, congenital heart anomaly, abnormal hands and feet, unusual face with abnormal ears, and recurrent respiratory infections. The proposita died at age 9 months and postmortem examination showed multiple central nervous system, cardiopulmonary, gastrointestinal, and genital malformations. Our proposita's phenotype is attributable to contributions from both chromosomes and is consistent with the consequences of both the dup(5p) and dup(14q).