Interstitial deletion of the long arm of chromosome 1 (1q 25-32). Clinical and endocrine features with a long term follow-up.
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.
Maggio
M C
MC
Maternal-Infantile Department, University of Palermo, Palermo, Italy. benfri@diseg.nipa.it
Iachininoto
R
R
Arena
V
V
Liotta
A
A
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