WILLIAMS CONTIGUOUS GENE SYNDROME
\wˈɪli͡əmz kəntˈɪɡjuːəs d͡ʒˈiːn sˈɪndɹə͡ʊm], \wˈɪliəmz kəntˈɪɡjuːəs dʒˈiːn sˈɪndɹəʊm], \w_ˈɪ_l_iə_m_z k_ə_n_t_ˈɪ_ɡ_j_uː_ə_s dʒ_ˈiː_n s_ˈɪ_n_d_ɹ_əʊ_m]\
Sort: Oldest first
-
A contiguous gene syndrome associated with a heterozygous microdeletion in the chromosomal region 7q11.23, encompassing the ELASTIN gene. Clinical manifestations include supravalvular aortic stenosis (AORTIC STENOSIS, SUPRAVALVULAR), MENTAL RETARDATION, elfin facies, impaired visuospatial constructive abilities, and transient hypercalcemia in infancy. The condition affects both sexes, with onset at birth or in early infancy.
By DataStellar Co., Ltd
Word of the day
SQ10,643
- A serotonin antagonist with limited antihistaminic, anticholinergic, and immunosuppressive activity.