title: Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome.
abstract: An 11-year-old girl with de novo r(15) (p12q26.3) with a clinical diagnosis of Silver-Russell syndrome (SRS) is presented. She had prenatal and postnatal growth deficiency with a severe short stature, peculiar facies characterized by a triangular face, a pinched nose with anteverted nostrils and down-turned corners of the mouth, bilateral clinodactyly of the fifth fingers, café-au-lait nevi, mental retardation, and a high level of serum follicular stimulating hormone. Southern blot analysis and chromosome fluorescence in situ hybridization revealed a deletion of the insulin-like growth factor 1 receptor gene (IGF1R) in the patient, the result indicating that IGF1R is assigned to 15q26.3. The deleted segment in our patient and comparisons with those of other reported cases of 15q-suggest that one of the putative SRS loci is at 15q26.3.
authors.affiliation: Department of Human Genetics, Nagasaki University School of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Tamura
authors.forename: T
authors.initials: T
authors.lastname: Tohma
authors.forename: T
authors.initials: T
authors.lastname: Ohta
authors.forename: H
authors.initials: H
authors.lastname: Soejima
authors.forename: N
authors.initials: N
authors.lastname: Harada
authors.forename: K
authors.initials: K
authors.lastname: Abe
authors.forename: N
authors.initials: N
authors.lastname: Niikawa
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002884:Chromosomes, Human, Pair 15; D002658:Developmental Disabilities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D005640:Follicle Stimulating Hormone / Q000097:blood; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000378:metabolism*; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D017451:Receptors, Somatomedin / Q000235:genetics* / Q000378:metabolism; D012303:Ring Chromosomes; D013577:Syndrome
chemical_list: D017451:Receptors, Somatomedin; D007334:Insulin-Like Growth Factor I; D005640:Follicle Stimulating Hormone