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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 ]
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]
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 ...
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 ...
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.
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 ...
Full trisomy 9 is a rare and fatal chromosomal disorder caused by having three copies of chromosome number 9.It can be a viable condition if the trisomic component affects only part of the cells of the body or in cases of partial trisomy of the short arm (trisomy 9p) in which cells have a normal set of two entire chromosomes 9 plus part of a third copy of the short arm ("p") of the chromosome.
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 .