title: IgA deficiency associated with growth hormone deficiency in a boy with short arm deletion of chromosome 18 (46,XY,18p-).
abstract: The authors report a 10-year-old boy with the short arm deletion of chromosome 18 extending to centromere with no evidence of mosaicism. Associated were growth hormone and IgA deficiencies. It seems to be the second example appeared in medical literature.
authors.affiliation: Department of Medical Genetics, Gülhane Military Medical Academy, Ankara, Türkiye.
authors.forename: D
authors.initials: D
authors.lastname: Gül
authors.forename: B S
authors.initials: BS
authors.lastname: Sayli
authors.forename: F
authors.initials: F
authors.lastname: Gök
authors.forename: E
authors.initials: E
authors.lastname: Gökçay
mesh_terms: D001120:Arginine; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18 / Q000648:ultrastructure*; D002658:Developmental Disabilities / Q000235:genetics*; D004393:Dwarfism, Pituitary / Q000235:genetics*; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D017098:IgA Deficiency / Q000235:genetics*; D007328:Insulin; D008607:Intellectual Disability / Q000235:genetics*; D007980:Levodopa; D008297:Male; D010901:Pituitary Function Tests; D011433:Propranolol; D017384:Sequence Deletion
chemical_list: D007328:Insulin; D007980:Levodopa; D013006:Growth Hormone; D001120:Arginine; D011433:Propranolol