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Unusual phenotype in partial trisomy 14.

E G Lemire¹, S Cardwell

¹Department of Pediatrics, University of Saskatchewan and Royal University Hospital, Saskatoon, Canada. edmond.lemire@usak.ca

American Journal of Medical Genetics

|December 10, 1999

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This study describes a unique case of partial trisomy 14q in an 8-year-old boy. Genetic analysis suggests imprinting or gene disruption on chromosomes 9 or 14 may cause his distinct developmental and physical features.

Area of Science:

Genetics
Developmental Biology
Clinical Medicine

Background:

Partial trisomy 14q is a rare chromosomal abnormality.
Reciprocal translocations can lead to unbalanced chromosomal segments in offspring.
Understanding chromosomal abnormalities is crucial for diagnosing developmental disorders.

Observation:

An 8-year-old boy presented with a unique phenotype, including minor facial anomalies, developmental delay, hyperphagia, and obesity.
The patient's mother was a carrier of a balanced 9;14 reciprocal translocation.
This specific presentation of trisomy 14q differed from previously documented cases.

Findings:

The patient exhibited partial trisomy 14q.
The chromosomal abnormality in the patient originated from a maternal 9;14 reciprocal translocation.

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The distinct phenotype suggests potential imprinting effects on chromosome 14 or gene disruption on chromosome 9.

Implications:

This case highlights the variability in phenotypes associated with partial trisomy 14q.
It underscores the importance of genetic counseling for carriers of reciprocal translocations.
Further research into imprinting and gene function on chromosomes 9 and 14 is warranted to understand this specific condition.