The University of Chicago Genetic Services Laboratories KIAA1279
... mutations in the FBN1 gene have been reported in affected individuals (6). Velocardiofacial syndrome (VCFS, OMIM #192430) (VCFS) is caused by a 1.5- to 3.0-Mb deletion of chromosome 22q11.2. It is associated with a highly variable phenotype, including frequent features such as cleft palate, cardiac ...
... mutations in the FBN1 gene have been reported in affected individuals (6). Velocardiofacial syndrome (VCFS, OMIM #192430) (VCFS) is caused by a 1.5- to 3.0-Mb deletion of chromosome 22q11.2. It is associated with a highly variable phenotype, including frequent features such as cleft palate, cardiac ...
TURNER SYNDROME - Aristotle University of Thessaloniki
... Stress and emotional deprivation Diseases affecting the kidneys, heart, lungs or intestines • Bone diseases • Learning problems( esp. in maths) ...
... Stress and emotional deprivation Diseases affecting the kidneys, heart, lungs or intestines • Bone diseases • Learning problems( esp. in maths) ...
Changes in Chromosome Number
... Amniocentesis a needle is used to withdraw fluid from the uterus which contains fetal cells Chorionic Villi Sampling - a suction tube inserted into the vagina removes fetal cells *Tests are not usually performed due to risk of spontaneous abortion. ...
... Amniocentesis a needle is used to withdraw fluid from the uterus which contains fetal cells Chorionic Villi Sampling - a suction tube inserted into the vagina removes fetal cells *Tests are not usually performed due to risk of spontaneous abortion. ...
What is Phelan-McDermid Syndrome?
... SHANK3 structurally supports synapses, the communication hubs between neurons. It gives instructions for making a protein (PROSAP2) that facilitates neuronal communication. The SHANK3 protein also helps create dendrites, which are specialized extensions from neurons that are essential for the transm ...
... SHANK3 structurally supports synapses, the communication hubs between neurons. It gives instructions for making a protein (PROSAP2) that facilitates neuronal communication. The SHANK3 protein also helps create dendrites, which are specialized extensions from neurons that are essential for the transm ...
22q11.2 Deletion (DiGeorge) Syndrome: a mother`s open letter
... loss of one of the genes included in the deletion, named TBX1.2 Research aimed at the discovery of TBX1 functions is at the forefront of current efforts to understand how the disease develops and if there are ways to ameliorate or prevent certain clinical symptoms. The TBX1 gene encodes a transcript ...
... loss of one of the genes included in the deletion, named TBX1.2 Research aimed at the discovery of TBX1 functions is at the forefront of current efforts to understand how the disease develops and if there are ways to ameliorate or prevent certain clinical symptoms. The TBX1 gene encodes a transcript ...
Cytogenetic Disorders Involving Sex Chromosomes
... ■ Patients with Down syndrome have severe mental retardation, flat facial profile, epicanthic folds, cardiac malformations, higher risk of leukemia and infections, and premature development of Alzheimer disease. ■ Deletion of genes at chromosomal locus 22q11.2 gives rise to malformations affecting ...
... ■ Patients with Down syndrome have severe mental retardation, flat facial profile, epicanthic folds, cardiac malformations, higher risk of leukemia and infections, and premature development of Alzheimer disease. ■ Deletion of genes at chromosomal locus 22q11.2 gives rise to malformations affecting ...
Di George
... Deletion on the long arm of Ch. 22. The deletion is quite long (2-3 Mb) in 95% of patients. ...
... Deletion on the long arm of Ch. 22. The deletion is quite long (2-3 Mb) in 95% of patients. ...
DiGeorge syndrome
DiGeorge syndrome is also known as 22q11.2 deletion syndrome,DiGeorge anomaly, velocardiofacial syndrome (VCFS), Shprintzen syndrome, conotruncal anomaly face syndrome (CTAF) or Takao syndrome, Sedlackova syndrome, Cayler cardiofacial syndrome,Strong syndrome, congenital thymic aplasia, and thymic hypoplasia. This syndrome is caused by the deletion of a small piece of chromosome 22. As such, it is recommended that the name ""22q11.2 deletion syndrome (22q11.2DS)"" be used.22q11.2DS is the most common microdeletion syndrome characterized by low copy repeats and the deletion occurs near the middle of the chromosome at a location designated 22q11.2—signifying its location on the long arm of one of the pair of chromosomes 22, on region 1, band 1, sub-band 2. The inheritance pattern is autosomal dominant and it has a prevalence estimated at 1:4000. The syndrome was described in 1968 by the pediatric endocrinologist Angelo DiGeorge. 22q11 deletion is also associated with truncus arteriosus and tetralogy of Fallot.