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Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. [1] ... the mortality rate was about 10%, with 75% of deaths ...
The chromosomal basis of Cri du chat syndrome consists of a deletion of the most terminal portion of the short arm of chromosome 5. 5p deletions, whether terminal or interstitial, occur at different breakpoints; the chromosomal basis generally consists of a deletion on the short arm of chromosome 5.
Cri du chat syndrome, where the characteristic cry of affected infants, which is similar to that of a meowing kitten, is due to problems with the larynx and nervous system. Familial dysautonomia, where there can be a lack of overflow tears (alacrima), during emotional crying. [50] Pseudobulbar affect, uncontrollable episodes of laughing and/or ...
Human infectious diseases may be characterized by their case fatality rate (CFR), the proportion of people diagnosed with a disease who die from it (cf. mortality rate).It should not be confused with the infection fatality rate (IFR), the estimated proportion of people infected by a disease-causing agent, including asymptomatic and undiagnosed infections, who die from the disease.
Cri du chat syndrome: 5 D Cystic fibrosis: 7q P DiGeorge syndrome: 22q D Down syndrome: 21 C Duchenne muscular dystrophy: Xp D Familial hypercholesterolemia: 19 P Haemochromatosis type 1: 6 P Hemophilia: X P Klinefelter syndrome: X C Neurofibromatosis: 17q/22q/? Phenylketonuria: 12q P Polycystic kidney disease: 16 or 4 P Prader–Willi syndrome ...
1p36 deletion syndrome. 1q21.1 deletion syndrome. Trisomy 1: 2 2q37 deletion syndrome: Trisomy 2: 3 Trisomy 3: 4 Wolf–Hirschhorn syndrome: Trisomy 4: 5 Cri du chat. 5q deletion syndrome. Trisomy 5: 6 Trisomy 6: 7 Williams syndrome: Trisomy 7: 8 Monosomy 8p Monosomy 8q Trisomy 8: 9 Alfi's syndrome. Kleefstra syndrome. Trisomy 9: 10 Monosomy ...
Congenital central hypoventilation syndrome; Congenital diaphragmatic hernia (CDH) Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism; Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins; Costello syndrome; Craniopagus parasiticus; Cri du chat syndrome ...
Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. [3] Many parts of the body are affected. [ 3 ] Babies are often born small and have heart defects . [ 3 ]