49, XXXXY syndrome

What causes 49,XXXXY syndrome?

49,XXXXY syndrome occurs by chance due to a random error in cell division (called nondisjunction) in the egg cells of the mother. During normal egg formation, chromosomes separate and a single X chromosome ends up in each egg cell. If chromosomes don't separate correctly during cell division, one egg cell ultimately can retain all of the X chromosomes that would normally be placed into 4 separate egg cells during cell division. If an egg cell containing four X chromosomes is fertilized by a normal male sperm (with one Y chromosome), the resulting fertilized egg cell will be affected.

The underlying reason for random errors in cell division is not known. However, there is nothing a person can do, or not do, before or during pregnancy to cause 49,XXXXY syndrome to occur.

The specific features of 49,XXXXY syndrome are thought result from increased "doses" of genes from the extra X chromosomes.

Last updated on 05-01-20

How might 49,XXXXY syndrome be treated?

There is no cure for 49,XXXXY syndrome. Treatment depends on the symptoms present in each person and is often managed by a team of various specialists. Specialists involved in the care of an affected person may include heart doctors (cardiologists), orthopedists, physiotherapists, speech therapists, eye doctors (ophthalmologists), neurologists, and endocrinologists. While life expectancy is thought to be normal in the absence of major complications, affected people will need regular medical visits.

Last updated on 05-01-20

Selected Full-Text Journal Articles

Full text-49,XXXXY

Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome Acta Paediatr. 2011 Jun;100(6):851-60.

Last updated on 04-27-20

Name: Chromosome Disorder Outreach CDO PO Box 724
Boca Raton, FL, 33429 , United States
Phone: +1-561-395-4252 Email: https://chromodisorder.org/contact/ Url: https://chromodisorder.org/
Name: Unique – Rare Chromosome Disorder Support Group G1, The Stables Station Road West
Surrey RH8 9EE
United Kingdom
Phone: +44 (0)1883 723356 Email: info@rarechromo.org Url: https://www.rarechromo.org/
Name: Association for X and Y Chromosome Variations AXYS P.O. Box 861
Mendenhall, PA, 19357,
Toll Free: 1-888-999-9428 Email: info@genetic.org Url: https://genetic.org/

Connect with other users with 49, XXXXY syndrome on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App