masa tu admin ingat lagi.. semua student kena buat tugasan berkaitan penyakit yang ada pada kanak2.. masa tu admin buat sorang2 jak...maklumle xde ramai kawan.. admin pilih untuk buat kajian tentang tajuk ni Cri Du Chat Syndrome.. masa buat pembentangan ada yang mentertawakan admin..maklumle admin ni bukan budak dari sekolah aliran sains macam depa.. admin dulu sekolah amik akaun.. bila start jak present ada yang dah start tanya soalan macam admin ni tak tahu apa2.. antara soalannya ejaan tu salah la Chat tu patutnya eja cat..katanya... nasib baik Dr Siti Nor backup admin time tu...kata Dr tu ejaan yang betul..memang disebut bunyinya cat (kucing) tetapi ejaan yang sebenarnya adalah dalam bahasa Perancis (Chat= kucing)..
barula semua terdiam.. apa sebenarnya admin nak share ni?? haha terlebih meluahkan perasaan pulak...admin sebenarnya nak share tentang syndrome ni yang admin rasa sangat asing bagi kita kat Malaysia ni.. yang selalu kita dengar syndrome down,syndrome turner... kalu sebut cri du chat syndrome mesti yang cakap apa tu????
meh kita sama2 baca petikan dari pengkaji yang buat kajian berkaitan syndrome ni..
Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p- (said minus) syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part (deletion) of chromosome 5. Its name is a French term (cat-cry or call of the cat) referring to the characteristic cat-like cry of affected children. It was first described by Jérôme Lejeune in 1963.[1] The condition affects an estimated 1 in 50,000 live births, strikes all ethnicities, and is more common in females by a 4:3 ratio.
~secara umumnya admin boleh kata syndrome ni berlaku apabila terdapat kromosom ke 5 telah hilang dari jumlah pasangan kromosom bayi yang lahir. dinamakan sebagai cry du chat kerana merujuk kepada ciri2 bayi/kanak2 tersebut yang berbunyi seperti kucing apabila menangis~
Signs and symptoms
The syndrome gets its name from the characteristic cry of affected infants, which is similar to that of a meowing kitten, due to problems with the larynx and nervous system. About 1/3 of children lose the cry by age 2. Other symptoms of cri du chat syndrome may include:- feeding problems because of difficulty swallowing and sucking;
- low birth weight and poor growth;
- severe cognitive, speech, and motor delays;
- behavioral problems such as hyperactivity, aggression, tantrums, and repetitive movements;
- unusual facial features which may change over time;
- excessive drooling;
- constipation;
- small head and jaw;
- wide eyes;
- skin tags in front of eyes.
It has also been observed that people with the condition have difficulties communicating. While levels of proficiency can range from a few words to short sentences, it is often recommended by medical professionals for the child to undergo some sort of speech therapy/aid with the help of a professional.
Less frequently encountered findings include cleft lip and palate, preauricular tags and fistulas, thymic dysplasia, intestinal malrotation, megacolon, inguinal hernia, dislocated hips, cryptorchidism, hypospadias, rare renal malformations (e.g., horseshoe kidneys, renal ectopia or agenesis, hydronephrosis), clinodactyly of the fifth fingers, talipes equinovarus, pes planus, syndactyly of the second and third fingers and toes, oligosyndactyly, and hyperextensible joints. The syndrome may also include various dermatoglyphics, including transverse flexion creases, distal axial triradius, increased whorls and arches on digits, and a single palmar crease.
Late childhood and adolescence findings include significant intellectual disability, microcephaly, coarsening of facial features, prominent supraorbital ridges, deep-set eyes, hypoplastic nasal bridge, severe malocclusion, and scoliosis.
Affected females reach puberty, develop secondary sex characteristics, and menstruate at the usual time. The genital tract is usually normal in females except for a report of a bicornuate uterus. In males, testes are often small, but spermatogenesis is thought to be normal.
Genetics
Cri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5, also called "5p monosomy". Approximately 90% of cases result from a sporadic, or randomly occurring, de novo deletion. The remaining 10-15% are due to unequal segregation of a parental balanced translocation where the 5p monosomy is often accompanied by a trisomic portion of the genome. These individuals may have more severe disease than those with isolated monosomy of 5p. A recent study suggests this may not be the case where a trisomy of chromosome 4q is involved.[3]Most cases involve total loss of the most distant 10-20% of the material on the short arm. Fewer than 10% of cases have other rare cytogenetic aberrations (e.g., interstitial deletions, mosaicisms, rings and de novo translocations). The deleted chromosome 5 is paternal in origin in about 80% of de novo cases. Loss of a small region in band 5p15.2 (cri du chat critical region) correlates with all the clinical features of the syndrome with the exception of the catlike cry, which maps to band 5p15.3 (catlike critical region).
The results suggest that 2 noncontiguous critical regions contain genes involved in this condition's etiology. Two genes in these regions, Semaphorine F (SEMA5A) and delta catenin (CTNND2), are potentially involved in cerebral development. The deletion of the telomerase reverse transcriptase (hTERT) gene localized in 5p15.33 may contribute to the phenotypic changes in cri du chat syndrome as well.
Diagnosis and management
Diagnosis is based on the distinctive cry and accompanying physical problems. Seeing as these symptoms are quite easily observable, affected children are typically diagnosed by a doctor or nurse at birth. Genetic counseling and genetic testing may be offered to families with individuals who have cri du chat syndrome. Prenatally the deletion of the cri du chat related region in the p arm of chromosome 5 can be detected from amniotic fluid or chorionic villi samples with BACs-on-Beads technology.G-banded karyotype of a carrier is also useful.[4] Children may be treated by speech, sound, and occupational therapists. Cardiac abnormalities often require surgical correction.~kiranya secara asasnya pengidap syndrome ni ada masalah berkaitan dengan kebolehan bercakapmereka~
~bagaimana nak ubati?? melalui terapi dan kaunseling genetik, terapi percakapan, bunyi juga boleh membantu~
~kepada parents jangan terlebih risau sebab setakat ini kes syndrome ni berlaku 1 dari 50 000 kelahiran bayi~ insyaallah mohon pada Allah agar dijauhkan dari musibah ni~
References
- Jump up ^ Lejeune J, Lafourcade J, Berger R, et al. (1963). "[3 Cases of partial deletion of the short arm of chromosome 5]". C. R. Hebd. Seances Acad. Sci. (in French) 257: 3098–102. PMID 14095841.
- Jump up ^ ped/504 at eMedicine
- Jump up ^ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3539376/
- Jump up ^ "Cri-du-chat Syndrome". Medscape. 11 August 2011. Retrieved 10 August 2012
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