The tricho-rhino-phalangeal syndromes: Frequency and parental origin of 8q deletions

Human Genetics

Volumn 99, Issue 5, 1997, Pages 638-643

  Nardmann, Judith ^a   Tranebjaerg, Lisbeth ^b   Horsthemke, Bernhard ^a   Lüdecke, Hermann Josef ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b University Hospital   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; CHONDRODYSPLASIA; CHROMOSOME 8Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; FATHER; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; INHERITANCE; KARYOTYPE; MENTAL DEFICIENCY; MOTHER; PRIORITY JOURNAL; SOUTHERN BLOTTING;

EID: 0030983732     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050420     Document Type: Article

References (30)

1. Ahn J, Lüdecke H-J, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE (1995) Cloning of the putative tumor suppressor gene for hereditary multiple exostoses. Nat Genet 11:137-143
2. Bühler EM, Malik NJ (1984) The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP 1 and TRP II syndromes: are they separate entities? Am J Med Genet 19:113-119
3. Bühler EM, Bühler UK, Beutler C, Fessier R (1987) A final word on thé tricho-rhino-phalangeal syndromes. Clin Genet 31:273-275
4. Byth BC, Costa MT, Teshima IE, Wilson WG, Carter NP, Cox DW (1995) Molecular analysis of three patients with interstitial deletions of chromosome band 14q31. J Med Genet 32:564-567
5. Chandley AC (1991) Review article: on the parental origin of de novo mutation in man. J Med Genet 28:217-223
6. Chen W, Hou J, Wagner MJ, Wells DE (1996) An integrated physical map covering 25 cM of human chromosome 8. Genomics 32:117-120
7. Chumakov IM, et al (1995) A YAC contig map of the human genome. Nature 377 (Suppl. The genome directory): 175-297
8. Cook A, Raskind W, Blanton SH, Pauli RM, Gregg RG, Francomano CA, Puffenberger E, Conrad EU, Schmale G, Schellenberg G, Wijsman E, Hecht JT, Wells D, Wagner MJ (1993) Genetic heterogeneity in families with hereditary multiple exostoses. Am J Hum Genet 53:71-79
9. Demczuk S, Lévy A, Aubry M, Croquette M-F, Philip N, Prieur M, Sauer U, Bouvagnet P, Rouleau GA, Thomas G, Aurias A (1995) Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature. Hum Genet 96:9-13
10. Donlon TA, Bruns GA, Latt SA, Mulholland J, Wyman AR (1987) A chromosome 8-enriched alphoid repeat. Cytogenet Cell Genet 46:607
11. Fryns JP, Berghe H Van den (1986) 8q24.12 interstitial deletion in the trichorhinophalangeal syndrome type I. Hum Genet 74: 188-189
12. Giedion A, Burdea M, Fruchter Z, Meloni T, Trosc V (1973) Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. Helv Paediatr Acta 28:249-259
13. Grimm T, Meng G, Liechti-Gallati S, Bettecken T, Müller CR, Müller B (1994) On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis. J Med Genet 31:183-186
14. Goldblatt J, Smart RD (1986) Tricho-rhino-phalangeal syndrome without exostoses, with an interstitial deletion of 8q23. Clin Genet 29:434-438
15. Hamers A, Jongbloet P, Peelers G, Fryns JP, Geraedts J (1990) Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion. Eur J Pediatr 149: 618-620
16. Horsthemke B (1997) Imprinting in the Prader-Willi/Angelman syndrome region on human chromosome 15. In: Reik W, Surani A (eds) Genomic imprinting. Oxford University Press, in press
17. Hou J, Parrish J, Lüdecke H-J, Sapru M, Wang Y, Chen W, Hill A, Siegel-Bartelt J, Northrup H, Elder FFB, Chinault C, Horsthemke B, Wagner MJ, Wells DE (1995) A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1). Genomics 29:87-97
18. Johnson VP, Altherr MR, Blake JM, Keppen LD (1994) FISH detection of Wolf-Hirschhorn syndrome: exclusion of D4F26 as critical site. Am J Med Genet 52:70-74
19. Knoll JHM, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA (1989) Angelman and Prader-Willi syndrome share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 32:285-290
20. La Pillo B (1996) Molekulare Analyse des Tricho-Rhino-Phalangeal-Syndroms Typ I. Thesis, Medizinische Fakultät, Universität Essen, Germany
21. Leprince D, Saule S, Taisne C De, Gegonne A, Begue A, Righi M, Stehelin D (1983) The human DNA locus related to the oncogene myb of avian myeloblastosis virus (AMV): molecular cloning and structural characterization. EMBO J 2:1073-1078
22. L̈decke H-J, Burdiek R, Senger G, Claussen U, Passarge E, Horsthemke B (1989) Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome. Hum Genet 82:327-329
23. Lüdecke H-J, Johnson C, Wagner MJ, Wells DE, Turleau C, Tommerup N, Latos-Bielenska A, Sandig K-R, Meinecke P, Zabel B, Horsthemke B (1991) Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. Am J Hum Genet 49:1197-1206
24. Lüdecke H-J, Wagner MJ, Nardmann J, La Pillo B, Parrish JE, Willems P, Haan EA, Frydman M, Hamers GJH, Wells DE, Horsthemke B (1995) Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. Hum Mol Genet 4:31-36
25. Overhauser J, McMahon J, Oberlender S, Carlin ME, Niebuhr E, Wasmuth JJ, Lee-Chen J (1990) Parental origin of chromosome 5 deletions in the cri-du-chat syndrome. Am J Med Genet 37:83-86
26. Schwartz CE, Johnson JP, Holycross B, Mandeville TM, Sears TS, Graul EA, Carey JC, Schroer RJ, Phelan MC, Szollar J, Flannery DB, Stevenson RE (1988) Detection of submicroscopic deletions in band 17q13 in patients with the Miller-Dicker syndrome. Am J Hum Genet 43:597-604
27. Shapira SK, Anderson KL, Orr-Urtregar A, Craigen WJ, Lupski JR, Shaffer LG (1994) De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. Am J Med Genet 52:44-50
28. vanTuinen P, Dobyns WB, Rich DC, Summers KM, Robinson TJ, Nakamura Y, Ledbetter DH (1988) Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dicker syndrome. Am J Hum Genet 43:587-596
29. Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, Pasantes J, Bricarelli FD, Keutel J, Hustert E, Wolf U, Tommerup N, Schempp W, Scherer G (1994) Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 79:1111-1120
30. Yamamoto Y, Oguro N, Miyao M, Yanagisawa M (1989) Trichorhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13. Am J Med Genet 32:133-135