These include curvature of the spine scoliosis and problems with the bones of the neck or upper back. Increased risk for mental illness. This includes anxiety, depression, or schizophrenia in adulthood.
Feeding difficulties. These may occur because of a cleft palate, gastroesophageal reflux, or other issues. Kidney problems. These may include an abnormally shaped kidney or a missing kidney. Make sure your child sees his or her healthcare provider for a diagnosis. He or she will do a physical exam. Your child may need certain tests. These may include:. This test looks at the structure of the heart and how well it is working. Fluorescent in situ hybridization FISH studies.
This blood test looks for certain genes that are deleted. This will look for other chromosome problems. Chromosomal microarray. This is similar to a FISH test. But it looks at many regions across all the chromosomes, including chromosome This is to find a missing piece in the 22q There is no cure for 22q But many of its related health problems can be treated.
You can help your child by seeking early care. It will also depend on how severe the condition is. He or she will look at any heart defects. The cardiologist may correct them with a procedure or surgery. Plastic surgeon, otolaryngologist or oral and maxillofacial surgeon, and speech pathologist. They will look at any cleft lip or cleft palate defects. Speech and digestive specialists.
They will look at any feeding problems. Some children with the syndrome have severe feeding problems. They need tube feedings in order to get enough nutrition. Immune system specialist. Your child should be checked by this type of specialist. If your child has a T cell problem, he or she is at risk for infections that keep coming back.
Your child should not have any live viral vaccines. Your child should have any blood products for a transfusion irradiated. Neurology and developmental pediatric specialist.
Learning, developmental, and behavioral difficulties are common. This type of healthcare provider can screen for as well as monitor and address these problems if they occur. This specialist treats problems of the endocrine system. Because the signs and symptoms of 22q Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome also called Shprintzen syndrome , and conotruncal anomaly face syndrome. In addition, some children with the 22q Once the genetic basis for these disorders was identified, doctors determined that they were all part of a single syndrome with many possible signs and symptoms.
To avoid confusion, this condition is usually called 22q However, the condition may actually be more common than this estimate because doctors and researchers suspect it is underdiagnosed due to its variable features. The condition may not be identified in people with mild signs and symptoms, or it may be mistaken for other disorders with overlapping features.
Most people with 22q This region contains 30 to 40 genes, many of which have not been well characterized. A small percentage of affected individuals have shorter deletions in the same region. This condition is described as a contiguous gene deletion syndrome because it results from the loss of many genes that are close together. Researchers are working to identify all of the genes that contribute to the features of 22q They have determined that the loss of a particular gene on chromosome 22, TBX1 , is probably responsible for many of the syndrome's characteristic signs such as heart defects, a cleft palate , distinctive facial features, hearing loss, and low calcium levels.
Some studies suggest that a deletion of this gene may contribute to behavioral problems as well. The loss of another gene, COMT , in the same region of chromosome 22 may also help explain the increased risk of behavioral problems and mental illness. The loss of additional genes in the deleted region likely contributes to the varied features of 22q The inheritance of 22q Most cases of 22q The deletion occurs most often as a random event during the formation of reproductive cells eggs or sperm or in early fetal development.
Affected people typically have no history of the disorder in their family, though they can pass the condition to their children. In about 10 percent of cases, a person with this condition inherits the deletion in chromosome 22 from a parent. In inherited cases, other family members may be affected as well. Genetics Home Reference has merged with MedlinePlus. Prenatal diagnosis of 22q11 microdeletion in a fetus with a conotruncal heart defect. Ultrasound Obstet Gynecol ; 11 : 68— Prenatal detection of tetralogy of Fallot with origin of the left pulmonary artery from the ascending aorta in a familial 22q11 microdeletion.
Prenat Diagn ; 19 : — Molecular confirmation of germ line mosaicism for a submicroscopic deletion of chromosome 22q Am J Med Genet ; 78 : — Are 22q Prenat Diagn ; 18 : 68— Renal abnormalities on obstetric ultrasound as a presentation of DiGeorge syndrome. Familial 22q11 deletions: phenotypic variability and determination of deletion boundaries by FISH. Google Scholar. Am J Med Genet ; 65 : — Preimplantation genetic diagnosis of DiGeorge syndrome.
Mol Hum Reprod ; 4 : — Antenatal diagnosis of DiGeorge syndrome. Lancet ; : PCR assay for screening patients at risk for 22q Genet Test ; 1 : — Am J Med Genet ; 68 : — Psychoeducational profile of the 22q microdeletion: a complex pattern.
J Pediatr ; : — Cognitive and behavioral profile of preschool children with chromosome 22q Am J Med Genet ; 85 : — A chromosome region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet ; 13 : — Characterization of chromosome 10p deletions associated with DiGeorge syndrome suggests two non-overlapping regions contribute to phenotype. Am J Hum Genet ; 62 : — Child with velocardiofacial syndrome and del 4 q Am J Med Genet ; 82 : — Am J Hum Genet ; 58 : — A novel 22q Am J Hum Genet ; 64 : — Article Google Scholar.
A 22q Am J Hum Genet ; 65 : — Patient with a 22q Am J Med Genet ; 86 : 27— A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science ; : — Fetal echocardiography.
Molecular definition of 22q11 deletions in velo-cardio-facial syndrome patients. Am J Hum Genet ; 61 : — Microdeletion 22q J Med Genet ; 36 : — Okada S, Nishisho I. Another critical region for deletion of 22q a study of patients. Am J Med Genet ; 72 : — Download references. You can also search for this author in PubMed Google Scholar. Reprints and Permissions. Driscoll, D. Prenatal diagnosis of the 22q Genet Med 3, 14—18 Download citation. Received : 08 August Accepted : 16 October Issue Date : 01 January
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