Get in touch with the right contacts for all of our services.
Program is one of only three in U.S. for children with X and Y chromosome variations
Nemours/Alfred I. duPont Hospital for Children has launched a comprehensive new program for children with X and Y chromosome variations. The eXtraordinarY Kids Clinic brings together a team of experts in medical and therapeutic disciplines to address the unique needs of patients with these common but frequently undiagnosed genetic conditions. It is just the third such program for children in the U.S.
For information or appointments: (215) 955-1648 or firstname.lastname@example.org
- X and Y chromosome variations differ from the typical chromosome pairings of XX for females and XY for males. Due to the addition or deletion of one or more X or Y chromosomes to the normal complement of 46, the resulting total of chromosomes may impact a child’s development and physical characteristics.
- Some of the more common conditions include Klinefelter syndrome in boys, usually resulting in above average height and low fertility; and Turner syndrome in girls, causing short stature and fertility problems. The X and Y chromsome disorders may be associated with symptoms that vary from mild to severe, including delayed pubertal development, speech delays, low muscle tone, attention deficits, and social/emotional issues.
- There are an estimated 500,000 people in the U.S. with an X or Y chromosome variation but only 25% are actually diagnosed in their lifetime. At this time, up to 20% of diagnoses are made through prenatal testing. In childhood, X and Y chromosome variations can be identified by a simple blood test called a chromosome karyotype.
- Experts predict that within the next five years, screening for X and Y chromosone disorders will be included among the standard newborn screening tests done in hospital nurseries. With proper early diagnosis and ongoing care, children with X and Y chromosome variations can succeed and achieve academically, physically and socially, and lead independent, productive lives.
- The Nemours eXtraordinarY Kids team is led by renowned pediatric endocrinologist Judith Ross, MD. Dr. Ross provides overall guidance concerning physical features, hormonal/endocrine issues, weight management, and any related medical concerns. Supporting Dr. Ross is a strong team of specialists in genetics, developmental pediatrics, psychology, psychiatry, physical, occupational and speech therapy, and social work.
"Our goal is to provide guidance to families from day one," said Dr. Ross. "First, we equip them with the best information about their child’s condition and answer all their questions to dispel any misunderstandings. Then we focus on working with the family to coordinate the proper medical management, support services, therapy and education for children as they grow."
— Judith Ross, MD, Nemours