22q FAQ's

Most frequent questions and answers
22q11.2 deletion syndrome, also known as 22q, is a genetic disorder caused by a missing piece of chromosome 22. It affects around 1 in 2,000 to 4,000 live births and can cause a range of physical, developmental, and psychiatric problems. Some of the physical features of 22q may include heart defects, cleft palate, and hearing loss. Developmental delays and learning difficulties may also be present, such as delayed speech, motor skills, and cognitive abilities. Psychiatric and behavioral issues, such as anxiety, depression, ADHD, and autism spectrum disorder, are also common. Diagnosis of 22q can be made through genetic testing, and treatment involves managing symptoms and providing support for affected individuals and their families.

NO, you did not do anything to cause this Syndrome.  A 22q deletion is usually a new (instead of an inherited) genetic change that is not found in either parent of the patient, and the parents did not do anything to make it happen.

Parents without the deletion are not at increased risk of having a second affected child. However, a person with 22q deletion has a 50% chance of passing it on to his or her child with every pregnancy.  The parents should meet with a genetics counselor prior to getting pregnant again.

 

Deletion is usually detected by using a simple blood sample sent to a clinical lab. The test involves sophisticated methods that can also reveal the size of the deletion.

22q is the second most common cause of heart defects and developmental delays. It also causes other major medical problems such as immune (fighting infection, allergies and asthma), palate, gastrointestinal (feeding, swallowing, and constipation), endocrine (calcium, thyroid and growth), skeletal (bones)- such as scoliosis, kidney, and ear, nose and throat.

Ideally, children with the 22q11.2 deletion should be followed in a multidisciplinary clinic, such as Joe DiMaggio 22q Clinic located in Hollywood, FL.

  • Cardiology
  • Endocrinology
  • Immunology
  • Speech/Language/Developmental Assessments
  • Blood work up

As well as:

  • A Renal Ultrasound (to check the kidneys)
  • X-rays of the neck (in children old enough to cooperate and where the bones are well ossified – so 3 to 4 years of age)
  • Deletion studies in both parents when available

 Depending on the symptoms may also include any or all of the following:

  • Plastic Surgery/ENT/Audiology
  • Gastroenterology/Feeding Team
  • Hematology
  • Urology/Nephrology
  • Orthopaedics
  • Ophthalmology
  • General Surgery
  • Dentistry
  • Rheumatology
  • Neurology/Neurosurgery
  • Psychiatry

 

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