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Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital disorder . Since the deletion takes place on the q arm of chromosome 11, it is also called 11q terminal deletion disorder. [ 1 ]
Jackson–Weiss syndrome; Jacobsen syndrome; Jaffe–Campanacci syndrome; Jalili syndrome; Jansen's metaphyseal chondrodysplasia; Janz syndrome; Jeavons syndrome; Jervell and Lange-Nielsen syndrome; Johanson–Blizzard syndrome; Johnson–McMillin syndrome; Johnson–Munson syndrome; Joubert syndrome; Juberg-Hellman syndrome; Jugular foramen ...
Trigonocephaly can either occur in a syndrome or isolated, all by itself. Trigonocephaly is associated with the following syndromes: Bohring-Opitz syndrome, Muenke syndrome, Jacobsen syndrome, Baller–Gerold syndrome and Say–Meyer syndrome. The etiology of trigonocephaly is mostly unknown although there are three main theories. [1]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Jacobsen syndrome; Beals syndrome [8] Blau syndrome; Freeman–Sheldon syndrome; Cerebrohepatorenal syndrome; Weaver syndrome; Christianson syndrome; Gordon syndrome; Jaccoud arthropathy; Lenz microphthalmia syndrome; Marshall–Smith–Weaver syndrome; Oculo-dento-digital syndrome; Tel Hashomer camptodactyly syndrome; Toriello–Carey syndrome ...
A new study finds that 9 out of 10 adults in the U.S. may have cardiovascular-kidney-metabolic (CKM) syndrome. The research found 90% of adults qualify for stage 1 or higher of this condition.
XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. [1] There are usually few symptoms. [ 2 ] These may include being taller than average and an increased risk of learning disabilities .
Watson syndrome; Werner syndrome (adult progeria) Westerhof syndrome; Whistling syndrome (craniocarpotarsal syndrome, distal arthrogryposis type 2, Freeman–Sheldon syndrome, Windmill–Vane–Hand syndrome) Wilson–Turner syndrome; Wolf–Hirschhorn syndrome (4p- syndrome) X-linked ichthyosis (steroid sulfatase deficiency, X-linked recessive ...