NH+Cri+du+Chat

=Cri du Chat=

Detection amniocentesis or CVS (Chorionic Villus Sampling) in the first trimester of pregnancy. An ultrasound may lead the doctor to suspect a disorder of this type and carry out further investigations but it is not possible to diagnose it solely by this means. Sources http://www.celebratingjulia.com/What.html http://www.emedicine.com/ped/topic504.htm http://www.criduchat.co.uk/diagnosis.html
 * also known as 5P Minus syndrome, Le Jeune's syndrome and Cat's-cry syndrome.
 * caused by a deletion or lack of genetic material on the short arm of the 5th chromosome
 * critical region for the syndrome is in band 5p 15.2 but the gene causing the characteristic cry is thought to be in band 15.3, so some children have all of the other symptoms of Cri du Chat, but not the cry
 * The region associated with the cry was localized to 1.5 Mb in distal band 5p15.31
 * The region associated with the speech delay was localized to 3.2 Mb in band 5p15.32-15.33
 * The region associated with the facial dysmorphology was localized to 2.4 Mb in band 5p15.2-15.31,
 * how do you get the defect?
 * 80% of the time it is caused by spontaneous deletion of the 5th chromosome
 * 10-13% of the time it is caused by an error in either parents' chromosome 5
 * 7-10% of the time it is caused by genetic abnormalities
 * other diseases based around chromosome 5
 * type of dwarfism, severe combined immunodeficiency, schizophrenia, colorectal cancer, basal cell carcinoma, deafness, acute myelogenous leukemia, susceptibility to obesity, and atrial septal defect (a heart defect).
 * characteristics
 * Monotone, weak, cat-like cry
 * caused by structure abnormality of the larynx and low muscle tone
 * floppy epiglottis, asymmetric vocal chords, small larynx
 * voice lowers as child grows but sometimes it goes on into adulthood
 * usually gone by age 2
 * low birth weight
 * Small head (microcephally)
 * Round face
 * Small receding chin (micrognathia)
 * Widely spaced eyes (hypertelorism)
 * Low set ears
 * Low broad nasal ridge
 * Folds of skin over the upper eyelid (epicanthic folds)
 * Distinctive palmar creases (creases on the palms of the hands)
 * mental retardation
 * delayed development
 * problems feeding
 * Early feeding problems are present because of swallowing difficulties; poor suck; failure to thrive; early ear infections; and severe cognitive, speech, and motor delays. Almost all affected individuals have these problems.
 * behavioral problems
 * hyperactivity
 * aggression
 * tantrums
 * stereotypic and self-injurious behavior
 * repetitive movements
 * hypersensitivity to sound
 * clumsiness
 * obsessive attachments to objects