Distinct 15q genotypes in Russell-Silver and ring 15 syndromes

American Journal of Medical Genetics

Volumn 62, Issue 1, 1996, Pages 10-15

  Rogan, Peter K ^a   Seip, James R ^a   Driscoll, Daniel J ^b   Papenhausen, Peter R ^c   Johnson, Virginia P ^d   Raskin, Salmo ^e   Woodward, Amy L ^f   Butler, Merlin G ^f,g  

^a PENN STATE COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF FLORIDA   (United States)

^c Roche Biomedical Laboratories   (United States)

^d UNIVERSITY OF SOUTH DAKOTA   (United States)

^e Genetics Laboratory   (Brazil)

^f VANDERBILT UNIVERSITY   (United States)

^g VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Angelman syndrome; chromosome 15; gene dosage; genomic imprinting; growth retardation; insulin like growth factor receptor; Prader Willi syndrome; ring 15 chromosome syndrome; Russell Silver syndrome; uniparental inheritance

Indexed keywords

DNA; SOMATOMEDIN RECEPTOR;

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINODACTYLY; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DNA POLYMORPHISM; FEMALE; GENE DOSAGE; HAPPY PUPPET SYNDROME; HUMAN; INFANT; MALE; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; RING CHROMOSOME; SHORT STATURE; SILVER RUSSELL SYNDROME;

EID: 0030003708     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19960301)62:1<10::aid-ajmg3>3.0.co;2-%23     Document Type: Article

References (33)

1. Armour JAL, Povey S, Jeremiah S, Jeffreys AJ (1990): Systemic cloning of human minisatellites from ordered array charomid libraries. Genomics 8:501-512.
2. Baker J, Liu JP, Robertson EJ, Efstratiadis A (1993): Role of insulin-like growth factors in embryonic and postnatal growth. Cell 75: 73-82.
3. Beckmann JS, Tomfohrde J, Barnes RI, Williams M, Bronx O, Richard I, Weissenbach J, Bowcock AM (1993): A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites. Hum Mol Genet 2:2019-2030.
4. Brissenden JE, Page DC, deMartinville B, Trousdale J, Botstein D, Francke U (1986): Regional assignments of three polymorphic DNA segments on human chromosome 15. Genet Epidemiol 3: 231-239.
5. Butler MG (1994): Prader-Willi and Angelman syndromes: Examples of genetic imprinting in man. In Seth PK, Seth S (eds): "Human Genetics." New Delhi: Omega Scientific Publishers, pp 185-200.
6. Butler MG, Meaney FJ (1987): Standards for selected anthropometric measurements in Prader-Willi syndrome. Pediatrics 88:853-860.
7. Butler MG, Fogo AB, Fuchs DA, Collins FS, Dev VG, Phillips JA (1988): Brief clinical report and review: Two patients with ring chromosome 15 syndrome. Am J Med Genet 29:149-154.
8. Butler MG, Dahir GA, Schwartz HS (1993): Molecular analysis of transforming growth factor beta in giant cell tumor of bone. Cancer Genet Cytogenet 66:108-112.
9. Donlon TA (1992): Report of the first international workshop on human chromosome 15 mapping. Cytogenet Cell Genet 61:162-166.
10. Francke U, Darras BT, Foellmer BE (1988): Loss of IGF-1 receptor gene in patients with ring chromosome 15 is related to Russell-Silver like phenotype. Proceedings of the 9th Annual David W. Smith Workshop on Malformations and Morphogenesis. Oakland, California, August 1988.
11. Knoll JHM, Nicholls RD, Magenis RE, Graham JM, Lalande M, Latt S (1989): Angelman and Prader-Willi syndromes share a common chromosome 15 deletion, but differ in parental origin of the deletion. Am J Med Genet 32:285-290.
12. Kosztolányi G (1987): Does "ring syndrome" exist? Analysis of 207 case reports on patients with a ring autosome. Hum Genet 75:174-179.
13. Kotzot D, Schmitt S, Bernasconi F, Robinson W, Lurie I, Llyina H, Méhes K, Hamel B, Otten B, Hergersberg M, Werder E, Schoenle E, Schinzel A (1995): Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 4:583-587.
14. Liu JP, Baker J, Perkins AS, Robertson EJ, Efstratiadis A (1993): Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r). Cell 75:59-72.
15. Malcolm S, Donlon TA (1994): Report of the second international workshop on human chromosome 15 mapping. Cytogenet Cell Genet 67:2-14.
16. Mbikay M, Linard CG, Sirois F, Lazure C, Seidah NG, Chrétien M (1988): Tissue-specific expression of the prostatic secretory protein PSP94 in cyanomolgus monkey (Macaca fascicularis). Cell Mol Biol 34:387-398.
17. Meloni R, Fougerousse F, Roudaut C, Beckmann JS (1992): Trinucleotide repeat polymorphism at the human insulin-like growth factor I receptor gene (IGF1R). Nucleic Acids Res 20:1427.
18. Mowery-Rushton PA, Hanchett JM, Surti W (194): Identification of Prader-Willi syndrome mosaicism by fluorescence in situ hybridization. Am J Hum Genet 55:113.
19. Neitzel H (1986): A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 73:320-326.
20. Nicholls RD (1993): Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: A review. Am J Med Genet 46:16-25.
21. Nicholls RD, Knoll JH, Glatt K, Hersh JH, Brewster TD, Graham JM, Wurster-Hill D, Wharton R, Latt SA (1989a): Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet 33:66-77.
22. Nicholls RD, Knoll JHM, Butler MG, Karam S, Lalande M (1989b): Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342:281-285.
23. Nuutinen M, Kouvalainen K, Knip M (1995): Good growth response to growth hormone treatment in the ring chromosome 15 syndrome. J Med Genet 32:486-487.
24. Petersen MB, Bartsch O, Adelsberger PA, Mikkelsen M, Schwinger E, Antonarakis SE (1992): Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21. Genomics 13:269-274.
25. Poduslo SE, Dean M, Kolch U, O'Brien S (1991): Detecting high-resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphism (SSCP) analysis. Am J Hum Genet 49:106-111.
26. Roback EW, Barakat AY, Dev VG, Mbikay M, Chrétien M, Butler MG (1991): An infant with deletion of the distal long arm of chromosome 15 (q26.1→qter) and loss of insulin-like growth factor I receptor gene. Am J Med Genet 38:74-79.
27. Spence JE, Percinccante RG, Greig GM, Huntington FW, Ledbetter DH, Hejtmancik JF, Pollack MS, Obrien WE, Beaudet AL (1989): Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 42:217-226.
28. Tamura T, Tohma T, Ohta T (193): Ring chromosome 15 involving deletion of the insulin-like growth factor receptor gene in a patient with features of Silver-Russell syndrome. Clin Dysmorphol 2:106-113.
29. Tantravahi U, Nicholls RD, Stroh H, Ringer S, Neve RL, Kaplan L, Wharton R, Wurster-Hill D, Graham JM, Cantu ES, Frias JL, Kousseff B, Latt SA (1989): Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in Prader-Willi syndrome. Am J Med Genet 33:78-87.
30. Ullrich A, Gray A, Tam AW, Yang-Feng T, Tsubokawa M, Collins C, Hentzell W, Le Bon T, Kathuria S, Chen E, Jacobs S, Francke U, Ramanchandran J, Fugita-Hamagushi Y (1986): Insulin-like growth factor receptor primary structure: Comparison with insulin receptor suggests structural determinants that define functional specificity. EMBO J 5:2501-2512.
31. Weber JL, May PE (1989): Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 44:388-396.
32. Wilson GN, Sauder SE, Bush M, Beitins IZ (1985): Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes. J Med Genet 22:233-236.
33. Woodage T, Prasad M, Dixon JW, Selby RE, Romain DR, Columbano-Green LM, Graham D, Rogan PK, Seip JR, Smith A, Trent RJ (1994): Bloom syndrome and maternal uniparental disomy for chromosome 15. Am J Hum Genet 55:74-80.