When.com Web Search

Search results

  1. Results From The WOW.Com Content Network
  2. Cri du chat syndrome - Wikipedia

    en.wikipedia.org/wiki/Cri_du_chat_syndrome

    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] It was first described by Jérôme Lejeune in 1963. [3]

  3. Jérôme Lejeune - Wikipedia

    en.wikipedia.org/wiki/Jérôme_Lejeune

    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 ...

  4. Chromosomal deletion syndrome - Wikipedia

    en.wikipedia.org/wiki/Chromosomal_deletion_syndrome

    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.

  5. List of congenital disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_congenital_disorders

    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 ...

  6. Monosomy - Wikipedia

    en.wikipedia.org/wiki/Monosomy

    Turner syndrome is the only full monosomy that is seen in humans — all other cases of full monosomy are lethal and the individual will not survive development. Cri du chat syndrome – (French for "cry of the cat" after the persons' malformed larynx) a partial monosomy caused by a deletion of the end of the short arm of chromosome 5

  7. Chromosome 5 - Wikipedia

    en.wikipedia.org/wiki/Chromosome_5

    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.

  8. Single transverse palmar crease - Wikipedia

    en.wikipedia.org/wiki/Single_transverse_palmar...

    Examples of conditions with such an association are fetal alcohol syndrome and the genetic chromosomal abnormalities, such as Down syndrome (chromosome 21), cri du chat syndrome (chromosome 5), Klinefelter syndrome, Wolf–Hirschhorn syndrome, Noonan syndrome (chromosome 12), Patau syndrome (chromosome 13), IDIC 15/Dup15q (chromosome 15 ...

  9. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    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 ...