Penta-X syndrome

What is Penta-X syndrome?

Penta-X syndrome meaning A chromosome disorder in females, caused by the presence of five X chromosomes rather than the usual two. It is characterized by decreased intelligence (IQ 20 to 75) and multiple malformations including upward-slanting palpebral fissures (eyeslits), heart defect, and small hands with incurving fifth fingers. It is the most severe extra-X syndrome in females. Also known as the penta-X syndrome.


reference: national Cancer Institute – Glossary for Registrars

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