Translocations involving 4p16.3 in three families: Deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome

Journal of Medical Genetics

Volumn 34, Issue 9, 1997, Pages 719-728

  Partington, Michael W ^a   Fagan, Kerry ^b   Soubjaki, Vincenza ^b   Turner, Gillian ^a  

^a Hunter Health   (Australia)

^b JOHN HUNTER HOSPITAL   (Australia)

Author keywords

4p16.3 deletion and duplication; A new overgrowth syndrome; FGFR3; Pitt Rogers Danks syndrome

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

ADULT; ARTICLE; CHILD; CHROMOSOME 4P; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; FACE DEVELOPMENT; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DOSAGE; GENE LOCUS; GENE MAPPING; GROWTH DISORDER; HUMAN; INTRAUTERINE GROWTH RETARDATION; MALE; MENTAL DEFICIENCY; MICROCEPHALY; POSTNATAL GROWTH; PRIORITY JOURNAL; SEIZURE; SYNDROME DELINEATION;

EID: 0030883748     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.9.719     Document Type: Article

References (28)

1. Pitt DB, Rogers JG, Danks DM. Mental retardation, unusual face, and intrauterine growth retardation. Am J Med Genet 1984;19:307-13.
2. Donnai D. Brief clinical report: a further patient with the Pitt-Rogers-Danks syndrome of mental retardation, unusual face, and intrauterine growth retardation. Am J Med Genet 1986;24:29-32.
3. Oorthyrs JWE, Bleeker-Wagemarkers EM. A girl with the Pitt-Rogers-Danks syndrome. Am J Med Genet 1989;32:140-1.
4. Lizcano-Gil LA, Garcia-Cruz D, Garcia-Cruz O, Sanchez-Corona J. Pitt-Rogers-Danks syndrome: further delineation. Am J Med Genet 1995;55:420-2.
5. Clemens M, McPherson EW, Surti U. 4p microdeletion in a child with Pitt-Rogers-Danks syndrome. Am J Hum Genet Suppl 1995;57:A85.
6. Altherr MR, Denison K, Clemens M, et al. Molecular overlap in Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes. Am J Hum Genet Suppl 1996;59:A23.
7. Stec I, Kant SG, Mollevanger P, et al. Analysis of the critical region of Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome. Am J Hum Genet Suppl 1996;59:A237.
8. Clemens M, Martsoff JT, Rogers JG, et al. Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion. Am J Med Genet 1996;66:95-100.
9. Lindeman-Kusse MC, Van Haeringen A, Hoorweg-Nijman JJG, Brunner HG. Cytogenetic abnormalities in two new-patients with Pitt-Rogers-Danks phenotype. Am J Med Genet 1996;66:104-12.
10. Donnai D. Editorial comment: Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome. Am J Med Genet 1996;66:101-3.
11. Dey J. Familial mental retardation associated with low birth weight dwarfism. In: Primrose DA, ed. Proceedings of the Second Congress of the International Association of Scientific Study of Mental Deficiency (Warsaw 1970). Lisse, The Netherlands: Swets and Zeitlinger, 1971:390-6.
12. Turner G, Engisch B, Lindsay DG, Turner B. X-linked mental retardation without physical abnormality (Renpenning's syndrome) in sibs in an institution. J Med Genet 1972;9:324-30.
13. Baxendale S, MacDonald M, Mott R, et al. A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington disease gene. Nat Genet 1993;4:181-6.
14. Reid E, Morrison N, Barron L, et al. Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study. J Med Genet 1996;33:197-202.
15. Johnson VP, Altherr MR, Blake JM, Keppen LD. FISH detection of Wolf-Hirschhorn syndrome: exclusion of D4F26 as critical site. Am J Med Genet 1994;52:70-4.
16. Estabrooks LL, Roa KW, Driscoll DA, et al. Preliminary phenotypic map of chromosome 4p16 based on 4p deletions. Am J Med Genet 1995;57:581-6.
17. de Grouchy J, Turleau C. Clinical atlas of human chromosomes. New York: John Wiley, 1984:50-5.
18. Fagan K, Colley P, Pattington M. A practical application of fluorescent in situ hybridization to the Wolf-Hirschhorn syndrome. Pediatrics 1994;93:826-7.
19. Wilson MG, Towner JW, Coffin GS, et al. Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome. Hum Genet 1981;59:297-307.
20. Stengel-Rutkowski J, Warkotsch A, Schimanek P, Stene J. Familial Wolfs syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates. Clin Genet 1984;25:500-21.
21. El-Rifai W, Leisti J, Kähkönen M, et al. A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8)(p16.3;q24.3)pat. J Med Genet 1995;32:65-7.
22. Estabrooks L, Lamb AN, Aylsworth AS, et al Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome. J Med Genet 1994;31:103-7.
23. Wheeler PG, Weaver DD, Palmer C. Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome. Am J Med Genet 1995;55:462-5.
24. Gonzalez CH, Sommer A, Meisner LF, et al. Trisomy 4p syndrome; case report and renew. Am J Med Genet 1977;1:137-56.
25. Patel SV, Dagnew H, Parekh AJ, et al. Clinical manifestations of trisomy 4p syndrome. Eur J Pediatr 1995;154:425-31.
26. Hughes HE, MacAlpine PJ, Cox DW, Phillips S. An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa. J Med Genet 1985;22:119-25.
27. Cole TRP, Hughes ME. Solos syndrome: a study of the diagnostic criteria and natural history. J Med Genet 1994;31:20-32.
28. Hughes-Benzie R, Allanson J, Hunter A, Cole T. The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes. J Med Genet 1992;29:928.