Introduction
Microdeletion syndromes are usually caused by a chromosomal deletion spanning one or several genes that are too small to be detected under the microscope using conventional cytogenetic methods. Depending on the size of the deletion, FISH or other methods of DNA analysis can be employed to identify such deletions.
DiGeorge / Velocardiofacial Syndrome (VCFS)
Microdeletion of chromosome 22 accounts for more than 90% of cases of DiGeorge anomaly which has an incidence of 1 in 4000 live births. Deletions of chromosome 22q11.2 are found in the vast majority of patients with DiGeorge anomaly and VCFS. Most deletions are de novo, with 10% or less inherited from an affected parent.
All probes that are currently in use to detect deletions in DiGeorge and VCFS are located within the described minimal critical region of 1.5 Mb.
Technical Features
All Poseidon Microdeletion probes (MD) are available in a Dual-Color format using two different fluorophores:
Poseidon Microdeletion probes are provided in a ready-to-use format.
Prader-Willi/Angelman Syndrome
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct complex disorders mapped to chromosome 15q11-q13. They both have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. However, the cognitive and neurologic impairment is more severe in AS, including seizures and ataxia. The behavioral and endocrine disorders are more severe in PWS, including obsessive-compulsive symptoms and hypothalamic insufficiency. Both disorders can result from microdeletion, uniparental disomy, or an imprinting center defect in 15q11-q13.
Introduction
Microdeletion syndromes are usually caused by a chromosomal deletion spanning one or several genes that are too small to be detected under the microscope using conventional cytogenetic methods. Depending on the size of the deletion, FISH or other methods of DNA analysis can be employed to identify such deletions.
DiGeorge / Velocardiofacial Syndrome (VCFS)
Microdeletion of chromosome 22 accounts for more than 90% of cases of DiGeorge anomaly which has an incidence of 1 in 4000 live births. Deletions of chromosome 22q11.2 are found in the vast majority of patients with DiGeorge anomaly and VCFS. Most deletions are de novo, with 10% or less inherited from an affected parent.
All probes that are currently in use to detect deletions in DiGeorge and VCFS are located within the described minimal critical region of 1.5 Mb.
Technical Features
All Poseidon Microdeletion probes (MD) are available in a Dual-Color format using two different fluorophores:
Poseidon Microdeletion probes are provided in a ready-to-use format.
Prader-Willi/Angelman Syndrome
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct complex disorders mapped to chromosome 15q11-q13. They both have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. However, the cognitive and neurologic impairment is more severe in AS, including seizures and ataxia. The behavioral and endocrine disorders are more severe in PWS, including obsessive-compulsive symptoms and hypothalamic insufficiency. Both disorders can result from microdeletion, uniparental disomy, or an imprinting center defect in 15q11-q13.