Tetrasomy X
Symptoms, Doctors, Treatments, Advances & More

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?
Advanced in Tetrasomy X
Advanced in Tetrasomy X
Referral may be required

St. Christopher's Pediatric Associates Neurology - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
Languages Spoken:
English

Daphne Hasbani is a Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Hasbani is rated as an Advanced provider by MediFind in the treatment of Tetrasomy X. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Seizures, Tetrasomy X, Epilepsy Juvenile Absence, and Absence Seizure. Dr. Hasbani is board certified in American Board Of Psychiatry And Neurology.

Advanced in Tetrasomy X
Advanced in Tetrasomy X
Referral may be required

Nemours Children's Hospital, Delaware

1600 Rockland Road, 
Wilmington, DE 
Experience:
16+ years
Languages Spoken:
English

Karen Carvalho is a Neurologist practicing medicine in Wilmington, Delaware. She has been practicing medicine for over 16 years. Dr. Carvalho is rated as an Advanced provider by MediFind in the treatment of Tetrasomy X. She is also highly rated in 24 other conditions, according to our data. Her clinical expertise encompasses Seizures, Tetrasomy X, Absence Seizure, and Epilepsy Juvenile Absence. Dr. Carvalho is board certified in American Board Of Psychiatry & Neurology.

 
 
 
 
Learn about our expert tiers
Learn More
Advanced in Tetrasomy X
Pediatric Endocrinology
Advanced in Tetrasomy X
Pediatric Endocrinology
Referral may be required

Main Hospital-Diabetes Complex Clinic

111 Michigan Avenue Northwest, 
Washington, DC 
Experience:
27+ years
Languages Spoken:
English, Korean
Offers Telehealth

Youn Hee Jee, MD, is an associate professor at The George Washington University. She graduated from the College of Medicine, Dankook University in South Korea and completed a pediatric residency at Dankook University hospital. She completed her second pediatric residency at the State University of New York Medical Center in Brooklyn and her clinical fellowship in pediatric endocrinology at NIH. Dr. Jee worked at NIH from 2013 to 2023. She has expertise in genetics of childhood growth disorders and runs the Growth Disorders Program. Her research is focused on expanding knowledge in childhood growth disorders by developing new approaches to identifying novel genetic causes of growth disorders. Her research also investigates new therapeutic targets to treat severe growth disorders. Dr. Jee believes that any child with growth concern should receive medical attention to be able to reach their genetic potential. Dr. Jee has discovered novel genes for syndromic short stature and a novel gene for overgrowth syndrome. She has published peer-reviewed manuscripts, book chapters and publications and has participated in consensus group to establish guidance for childhood growth disorders. Dr. Jee is board-certified pediatrician and pediatric endocrinologists. She is a member of the Pediatric Endocrine Society and Endocrine Society. Dr. Jee is rated as an Advanced provider by MediFind in the treatment of Tetrasomy X. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Short Stature (Growth Disorders), Tetrasomy X, Familial Hypopituitarism, and Hypopituitarism. Dr. Jee is board certified in Pediatric Endocrinology: American Board Of Pediatrics, 2013 and Pediatrics: American Board Of Pediatrics, 2012.

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

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