Tetrasomy X Overview

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Learn About Tetrasomy X

What is the definition of Tetrasomy X?
Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with Tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. The signs and symptoms of Tetrasomy X vary, but can include mild to moderate speech and learning difficulties; developmental delay; distinctive facial features; dental abnormalities; hypotonia and joint laxity; radioulnar synostosis; heart defects; hip dysplasia; and problems with ovarian function. An increased risk of childhood infections has also been reported. Tetrasomy X is caused by a random error that occurs during the development of an egg cell and is not caused by anything a mother does during her pregnancy.
What are the alternative names for Tetrasomy X?
  • Tetrasomy X
  • 48 XXXX
  • 48 XXXX syndrome
  • 48,XXXX syndrome
  • Quadruple X
  • Tetra X
Who are the top Tetrasomy X Local Doctors?
Distinguished in Tetrasomy X
Dr. Nicole R. Tartaglia
Developmental and Behavioral Pediatrics | Pediatrics
Distinguished in Tetrasomy X
Dr. Nicole R. Tartaglia
Developmental and Behavioral Pediatrics | Pediatrics

University Physicians Incorporated

12605 E 16th Ave, Uchealth Anschutz Medical, 
Aurora, CO 
720-848-0000
Languages Spoken:
English
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Accepting New Patients

Nicole Tartaglia is a Developmental and Behavioral Pediatrics specialist and a Pediatrics provider in Aurora, Colorado. Dr. Tartaglia is rated as a Distinguished provider by MediFind in the treatment of Tetrasomy X. Her top areas of expertise are Triple X Syndrome, Tetrasomy X, Partial Deletion of Y, and Turner Syndrome. Dr. Tartaglia is currently accepting new patients.

Distinguished in Tetrasomy X
Dr. Dilip K. Jayaraman
Neurology
Distinguished in Tetrasomy X
Dr. Dilip K. Jayaraman
Neurology

Main Line Healthcare

100 E Lancaster Ave, Suite 256, 
Wynnewood, PA 
610-325-3880
Languages Spoken:
English
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Dilip Jayaraman is a Neurologist in Wynnewood, Pennsylvania. Dr. Jayaraman is rated as a Distinguished provider by MediFind in the treatment of Tetrasomy X. His top areas of expertise are Tetrasomy X, Stroke, CAPOS Syndrome, Seizures, and Thrombectomy.

 
 
 
 
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Distinguished in Tetrasomy X
Keiko Yamamoto-Shimojima
Distinguished in Tetrasomy X
Keiko Yamamoto-Shimojima
Tokyo, JP 

Keiko Yamamoto-Shimojima practices in Tokyo, Japan. Ms. Yamamoto-Shimojima is rated as a Distinguished expert by MediFind in the treatment of Tetrasomy X. Her top areas of expertise are Tetrasomy X, Hypotonia, Aase Syndrome, and Micrognathia.

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What are the latest Tetrasomy X Clinical Trials?
The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
Enrollment Status: Recruiting
Publish Date: May 09, 2024
Intervention Type: Other

Summary: This study is designed to research the natural history of neurodevelopment, health and early hormonal function in infants with XXY/Klinefelter syndrome, XYY, XXX and other sex chromosome variations in an effort to identify early predictors of developmental and health outcomes. The Investigators will also evaluate different developmental screening tools in infants with sex chromosome variations so ...

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center