XL Cri-Du-Chat
XL Cri-Du-Chat detects deletions in the short arm of chromosome 5. The orange labeled probe hybridizes to a chromosomal locus at 5p15.2-15.3. The green labeled probe hybridizes to a specific locus at 5q31.2 and functions as a reference probe.
The Cri-du-Chat syndrome (CdCS), or 5p-minus syndrome, was first described by Lejeune et al. in 1963, a French pediatrician and geneticist. The name refers to the main clinical feature of the syndrome, a characteristic cat-like cry in early childhood. The severity of further symptoms as microcephaly, mental retardation, delayed development, craniofacial manifestations, and other anomalies may vary strongly among individuals. CdCS is a rather frequent microdeletion syndrome with an incidence of about 1:15.000 to 1 :50.000 live births. The majority of patients carry a terminal deletion of the short arm of chromosome 5 with breakpoints ranging from 5p13 to 5p15.2 with a size of up to 40 Mb. Most 5p deletions occur de novo, probably during spermatogenesis. Breakpoints are not well defined and differ between CdCS cases. Only a few patients have an interstitial deletion, translocations or other less common aberrations. Patient studies established a link between the size of the deleted region and the CdCS phenotype and identified regions 5p15.2 and 5p15.3 responsible for dysmorphism, mental retardation, and the cat-like cry.
Cena za kus: pro registrované
The Cri-du-Chat syndrome (CdCS), or 5p-minus syndrome, was first described by Lejeune et al. in 1963, a French pediatrician and geneticist. The name refers to the main clinical feature of the syndrome, a characteristic cat-like cry in early childhood. The severity of further symptoms as microcephaly, mental retardation, delayed development, craniofacial manifestations, and other anomalies may vary strongly among individuals. CdCS is a rather frequent microdeletion syndrome with an incidence of about 1:15.000 to 1 :50.000 live births. The majority of patients carry a terminal deletion of the short arm of chromosome 5 with breakpoints ranging from 5p13 to 5p15.2 with a size of up to 40 Mb. Most 5p deletions occur de novo, probably during spermatogenesis. Breakpoints are not well defined and differ between CdCS cases. Only a few patients have an interstitial deletion, translocations or other less common aberrations. Patient studies established a link between the size of the deleted region and the CdCS phenotype and identified regions 5p15.2 and 5p15.3 responsible for dysmorphism, mental retardation, and the cat-like cry.
Cena za kus: pro registrované
