title: Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R?
abstract: We report a 4-year-old boy, a 6-month-old girl, and a 17-week-old fetus all with a chromosomal imbalance derived from a balanced translocation t(13;15)(q34;q26.1) of their father. The boy had a partial trisomy for 15q26.1-qter (46,XY,der(13)t(13;15)(q34;q26.1)) and postnatal overgrowth, as well as craniosynostosis, facial anomalies, and finger joint contractures, while the girl with the same chromosomal aberration did not show overgrowth, although she had similar craniofacial and skeletal abnormalities. The fetus had a partial monosomy for 15q26.1-qter and intrauterine growth retardation (IUGR). Fluorescence in situ hybridization (FISH) analysis with a BAC clone covering the insulin-like growth factor 1 receptor gene (IGF1R) that is located to 15q25-q26 revealed three copies in the boy, one copy in the fetus, and two copies in their phenotypically normal father. Since deletion of IGF1Rhas repeatedly been reported to be associated with IUGR, it is tempting to speculate that the dosage of IGF1R may have determined growth in these children.
authors.affiliation: Department of Pediatrics, Dokkyo University School of Medicine, Koshigaya Hospital, Saitama, Japan. t-nagai@dokkyomed.ac.jp
authors.forename: Toshiro
authors.initials: T
authors.lastname: Nagai
authors.forename: Osamu
authors.initials: O
authors.lastname: Shimokawa
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Satoru
authors.initials: S
authors.lastname: Sakazume
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.forename: Kazuo
authors.initials: K
authors.lastname: Obata
authors.forename: Atsunori
authors.initials: A
authors.lastname: Yoshino
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Murakami
authors.forename: Takayasu
authors.initials: T
authors.lastname: Murai
authors.forename: Ryoichi
authors.initials: R
authors.lastname: Sakuta
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
mesh_terms: D000028:Abortion, Induced; D002675:Child, Preschool; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics* / Q000473:pathology; D018628:Gene Dosage; D006130:Growth Disorders / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D009006:Monosomy; D010375:Pedigree; D017526:Receptor, IGF Type 1 / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy
chemical_list: D017526:Receptor, IGF Type 1