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Partial trisomy 16 as a result of familial 16;20 translocation
Journal of Medical Genetics
|October 1, 1984
Insights
Partial trisomy 16q is rare in livebirths and often results in infant death. Affected infants experienced severe growth retardation and distinct facial features, alongside intractable diarrhea.
Area of Science:
- Genetics
- Developmental Biology
- Pediatric Medicine
Background:
- Trisomy 16 is a common finding in spontaneous abortions, but its occurrence in livebirths is rare.
- Limited clinical data exists regarding the effects of trisomy 16 in liveborn infants.
Observation:
- This study reports on two siblings diagnosed with partial trisomy 16q.
- Both infants exhibited severe intrauterine growth retardation.
- Characteristic dysmorphic features were noted, including elfin facies, prominent foreheads, and low-set ears.
Findings:
- The partial trisomy 16q in both siblings led to infant mortality.
- Clinical manifestations included severe growth retardation, distinctive facial anomalies, abnormal genitalia, and intractable diarrhea.
- These findings highlight a severe phenotype associated with partial trisomy 16q.
Implications:
- This case series expands the understanding of clinical manifestations in partial trisomy 16q.
- It underscores the critical impact of chromosomal abnormalities on fetal development and survival.
- Further research is needed to elucidate the full spectrum of this condition and potential management strategies.
Abstract:
Although trisomy 16 is well recognised in spontaneous abortuses, it is infrequent in livebirths and there is little information about the clinical effects. We report two sibs with partial trisomy 16q resulting in infant death. Both children were severely growth retarded with small elfin faces, prominent foreheads, low set ears, abnormal external genitalia, and intractable diarrhoea.