title: Interstitial deletion of the long arm of chromosome 1 (1q 25-32). Clinical and endocrine features with a long term follow-up.
abstract: Deletion of long arm of chromosome 1 (1q-) is a rare condition with malformations of many organs (central nervous system, heart, kidney, etc.). Authors describe a young girl characterised by 1q 25-32 deletion, with severe intra- and extrauterine growth retardation, facial dismorphisms, multiple organ malformations. The patient is followed for a long-term clinical and endocrine evaluation, with evidence of hypoplastic hypophysis and multiple endocrine deficiency.
authors.affiliation: Maternal-Infantile Department, University of Palermo, Palermo, Italy. benfri@diseg.nipa.it
authors.forename: M C
authors.initials: MC
authors.lastname: Maggio
authors.forename: R
authors.initials: R
authors.lastname: Iachininoto
authors.forename: V
authors.initials: V
authors.lastname: Arena
authors.forename: A
authors.initials: A
authors.lastname: Liotta
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D004700:Endocrine System Diseases / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging