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Down's syndrome with additional XYY aneuploidy.

P M Leary, P M Webb, C W Melzer

Clinical Genetics

|July 1, 1975

Summary

This summary is machine-generated.

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This report details a case of Down syndrome with an additional XYY chromosome abnormality. After five years of observation, no unique physical traits were identified that differentiate this patient from other individuals with Down syndrome.

Area of Science:

Genetics
Human Biology
Pediatrics

Background:

Down syndrome (Trisomy 21) is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
XYY syndrome (47,XYY) is a genetic condition in males caused by an extra Y chromosome.

Purpose of the Study:

To report a rare case of an individual with both Down syndrome and XYY aneuploidy.
To investigate potential distinguishing phenotypic features in such a combined genetic condition.

Main Methods:

Case reporting and longitudinal clinical observation.
Phenotypic assessment and comparison with established Down syndrome criteria.

Main Results:

A case of Down syndrome with concurrent XYY aneuploidy was identified and followed for five years.

Related Experiment Videos

No specific phenotypic characteristics were observed that distinguish this patient from individuals with Down syndrome alone.

Conclusions:

The co-occurrence of Down syndrome and XYY aneuploidy does not appear to present a unique or readily identifiable phenotype.
Further research may be needed to understand the long-term implications, if any, of this specific chromosomal combination.