Search results
Results from the WOW.Com Content Network
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 (sound sample ). [2] It was first described by Jérôme Lejeune in 1963. [3]
They have discovered, however, that a larger deletion tends to result in more severe mental retardation and developmental delays in people with cri-du-chat syndrome. [13] [14] [15] Researchers have defined narrow regions of the short arm of chromosome 5 that are associated with particular features of cri-du-chat syndrome.
Jérôme Jean Louis Marie Lejeune (French pronunciation: [ʒeʁom ʒɑ̃ lwi maʁi ləʒœn]; 13 June 1926 – 3 April 1994) was a French pediatrician and geneticist, best known for his work on the link of diseases to chromosome abnormalities, most especially the link between Down Syndrome and trisomy-21 and cri du chat syndrome, amongst several others, and for his subsequent strong opposition ...
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: 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 ...
A little dark chocolate can go a long way! A new study suggests that dark chocolate may have benefits in preventing the development of Type 2 diabetes, NPR reported. The study, published in The ...
They also think that when Huskies chat with their humans it's a sign of affection, even though many times it sounds like complaining and arguing. It makes me think of the way our human kids ...
Elon Musk's chatbot Grok can carry on a conversation like a human being — albeit a frustratingly repetitive, not-very-funny human being. (Illustration by Jim Cooke/Los Angeles Times; Photo by ...