Submicroscopic deletion of chromosome 16p13.3 in Patients with Rubinstein-Taybi syndrome

American Journal of Medical Genetics

Volumn 78, Issue 3, 1998, Pages 267-270

  Taine, Laurence ^a   Goizet, Cyril ^a   Wen, Zong Qi ^a   Petrij, Fred ^b   Breuning, Martijn H ^b   Aymé, Ségolène ^c   Saura, Robert ^a   Arveiler, Benoit ^a   Lacombe, Didier ^a  

^a HÔPITAL PELLEGRIN   (France)

^b LEIDEN UNIVERSITY   (Netherlands)

^c INSERM   (France)

Author keywords

Chromosome 16p13.3; Fluorescence in situ hybridization; Probe RT1; Rubinstein Taybi syndrome; Submicroscopic deletion

Indexed keywords

ARTICLE; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; CYTOGENETICS; DIAGNOSTIC ACCURACY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; RUBINSTEIN SYNDROME;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; COSMIDS; CREB-BINDING PROTEIN; DNA PROBES; FEMALE; FRANCE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MUTATION; NUCLEAR PROTEINS; RUBINSTEIN-TAYBI SYNDROME; TRANS-ACTIVATORS;

EID: 0031801253     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980707)78:3<267::AID-AJMG12>3.0.CO;2-D     Document Type: Article

References (21)

1. Akimaru H, Chen Y, Dai P, Hou DX, Nonaka M, Smolik SM, Armstrong S, Goodman RH, Ishii S (1997): Drosophila CBP is a co-activator of cubitus interruptus in hedgehog signalling. Nature 386:735-738.
2. Allanson J (1993): Microcephaly in Rubinstein-Taybi syndrome. Am J Med Genet 46:244-246.
3. Borrow J, Stanton VP, Andresen JM, Becher R, Behm FG, Chaganti RSK, Civin CI, Disteche C, Dube I, Frischauf AM, Horsman D, Mitelman F, Volinia S, Watmore AE, Housman DE (1996): The translocation t (8;16) (p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB binding protein. Nat Genet 14:33-41.
4. Breuning MH, Dauwerse HG, Fugazza G, Saris JJ, Spruit L, Wijnen H, Tommerup N, van den Boogaard MJ, de Pater JM, Mariman ECM, Hamel BCJ, Himmelbauer HH, Frischauf AM, Stallings RL, Beverstock GC, van Ommen GJB, Hennekam RCM (1993): Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. Am J Hum Genet 52:249-254.
5. Hennekam RCM, Stevens CA, van de Kamp JJP (1990a): Etiology and recurrence risk in Rubinstein-Taybi syndrome. Am J Med Genet (Suppl) 6:56-64.
6. Hennekam RCM, Tilanus M, Hamel BCJ, Voshart-Van Heeren H, Mariman ECM, van Beersum SEC, van den Boogaard MJ (1993): Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: Clinical aspects. Am J Hum Genet 52:255-262.
7. Hennekam RCM, van den Boogaard MJ, Sibbles BJ, Van Spijker HG (1990b): Rubinstein-Taybi syndrome in the Netherlands. Am J Med Genet (Suppl) 6:17-29.
8. Imaizumi K, Kuroki Y (1991): Rubinstein-Taybi syndrome with de novo reciprocal translocation t (2;16) (p13.3;p13.3). Am J Med Genet 38:636-639.
9. Lacombe D, Saura R, Taine L, Battin J (1992): Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3. Am J Med Genet 44:126-128.
10. Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont MEM, Rand EB, Piccoli DA, Hood L, Spinner NB (1997): Alagille syndrome is caused by mutations in human Jagged 1, which encodes a ligand for Notch 1. Nat Genet 16:243-251.
11. MacGaughran JM, Gaunt L, Dore J, Petrij F, Dauwerse HG, Donnai D (1996): Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: Two UK patients. J Med Genet 33:82-83.
12. Masuno M, Imaizumi K, Kurosawa K, Makita Y, Petrij F, Dauwerse HG, Breuning MH, Kuroki Y (1994): Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome. Am J Med Genet 53:352-354.
13. Miller RW, Rubinstein JH (1995): Tumors in Rubinstein-Taybi syndrome. Am J Med Genet 56:112-115.
14. Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC (1997): Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 16:235-242.
15. Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RCM, Masuno M, Tommerup N, van Ommen GJB, Goodman RH, Peters DJM, Breuning MH (1995): Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 376:348-351.
16. Rubinstein JH (1990): Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988. Am J Med Genet (Suppl) 6:3-16.
17. Rubinstein JH, Taybi H (1963): Broad thumbs and toes and facial abnormalities: A possible mental retardation syndrome. Am J Dis Child 105: 588-608.
18. Siraganian PA, Rubinstein JH, Miller RW (1989): Keloids and neoplasms in the Rubinstein-Taybi syndrome. Med Pediatr Oncol 17:485-491.
19. Taki T, Sako M, Tsuchida M, Hayashi Y (1997): The t (11;16) (q23;p13) translocation in myelodysplastic syndrome fuses the MLL gene to the CBP gene. Blood 89:3945-3950.
20. Tommerup N, van der Hagen CB, Heiberg A (1992): Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t (7;16) (q34;p13.3). Am J Med Genet 44:237-241.
21. Wallerstein R, Anderson CE, Hay B, Gupta P, Gibas L, Ansari K, Cowchock FS, Weinblatt V, Reid C, Levitas A, Jackson L (1997): Submicroscopic deletion at 16p13.3 in Rubinstein-Taybi syndrome: Frequency and clinical manifestations in a North American population. J Med Genet 34:203-206.