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Mosaic tetrasomy 8p

D Newton¹, L Hammond, J Wiley

¹Department of Pediatrics, ECU School of Medicine, Greenville, NC 27858-4354.

American Journal of Medical Genetics

|June 15, 1993

Summary

This summary is machine-generated.

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This study details a patient with mosaic tetrasomy 8p, a rare genetic condition. The patient exhibits developmental delays, particularly in language, consistent with previously reported cases.

Area of Science:

Genetics
Developmental Biology
Clinical Medicine

Background:

Mosaic tetrasomy 8p is a rare chromosomal abnormality.
Isochromosome 8p (i(8p)) results in partial trisomy for the short arm of chromosome 8.
Understanding the phenotypic spectrum of i(8p) is crucial for genetic counseling and patient management.

Observation:

A patient presented with mosaic tetrasomy 8p (46,XX/47,XX+i(8p)).
Clinical features included skeletal anomalies (fused vertebrae, abnormal ribs), congenital heart defects, agenesis of the corpus callosum, hypotonia, and global developmental delay.

Findings:

Developmental delays were most pronounced in receptive and expressive language.
Cognitive, sensorimotor, and motor skills showed moderate delays.

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The observed phenotype aligns with the three previously documented cases of mosaic i(8p).

Implications:

This case expands the known phenotypic variability of mosaic tetrasomy 8p.
Highlights the significant impact of i(8p) on neurodevelopment, especially language.
Further research into the genetic and molecular mechanisms underlying i(8p) is warranted.