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Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. [1] Its name is a French term ("cat-cry" or " call of the cat ") referring to the characteristic cat-like cry of affected children. [ 2 ]
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.
Chromosome 5, trisomy 5p; Chromosome 5, trisomy 5pter p13 3; Chromosome 5, trisomy 5q ... Cri du chat syndrome aka cat's cry or 5P- (5P minus) syndrome; Crigler ...
Changes to chromosome 5 include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial trisomy 5p or 5q), a missing segment of the long arm of the chromosome in each cell (partial monosomy 5q), and a circular structure called ring chromosome 5. A ring chromosome occurs when both ends of a broken chromosome are ...
49, XXXXY syndrome; 5 alpha reductase 2 deficiency; 5-alpha-Oxoprolinase deficiency, rare (NIH) 5-Nucleotidase syndrome, rare (NIH) 5p minus syndrome; 5q- syndrome; 6 alpha mercaptopurine sensitivity, rare (NIH) 6-pyruvoyltetrahydropterin synthase deficiency; 7-dehydrocholesterol reductase deficiency; 8p23.1 duplication syndrome; 9q34 deletion ...
Chromosome 5q deletion syndrome is an acquired, hematological disorder characterized by loss of part of the long arm (q arm, band 5q33.1) of human chromosome 5 in bone marrow myelocyte cells. This chromosome abnormality is most commonly associated with the myelodysplastic syndrome .
A karyotype of an individual with trisomy 21, showing three copies of chromosome 21.. An abnormal number of chromosomes is known as aneuploidy, and occurs when an individual is either missing a chromosome from a pair (resulting in monosomy) or has more than two chromosomes of a pair (trisomy, tetrasomy, etc.).
Wolf–Hirschhorn syndrome (WHS) is a chromosomal deletion syndrome resulting from a partial deletion on the short arm of chromosome 4 [del(4)(p16.3)]. [3] Features include a distinct craniofacial phenotype and intellectual disability .