12q12 deletion: A new patient contributing to genotype-phenotype correlation

American Journal of Medical Genetics, Part A

Volumn 146, Issue 10, 2008, Pages 1354-1357

  Failla, Pinella ^a   Romano, Corrado ^a   Reitano, Santina ^a   Di Benedetto, Daniela ^a   Grillo, Lucia ^a   Fichera, Marco ^a   Castiglia, Lucia ^a  

^a OASI RESEARCH INSTITUTE IRCCS   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME 12Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LETTER; MALE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 12; FACE; GENOTYPE; HUMANS; MALE; MENTAL RETARDATION; MUSCLE HYPOTONIA; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE;

EID: 43049085540     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32280     Document Type: Letter

References (21)

1. Brady AF, Elsawi MM, Jamieson CR, Marks K, Jeffery S, Patton MA, Murtanza L, Savage MO. 1999. Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12. J Med Genet 36:939-941.
2. Ferro MT, Garcia-Sagredo JM, Resino M, Larana J, Cabezudo E, San Roman C. 1995. Interstitial del(12)(q15q22) in myelodys-plastic syndromes. Cancer Genet Cytogenet 80:158-159.
3. Funderburk SJ, Sparkes RS, Klisak I, Law ML. 1984. Chromosome deletion mapping of interspersed low-copy repetitive DNA. Am J Hum Genet 36:769-776.
4. Gallego M, Barreiro C, Perez M, Arroyo H, Menehem J. 2000. A new case of interstitial 12q deletion. Int Pediatr 15:37-40.
5. James PA, Oei P, Ng D, Kannu P, Aftimos S. 2005. Another case of interstitial del (12) involving the proposed cardio-facio-cutaneous candidate region. Am J Med Genet Part A 136A:12-16.
6. Kalenik JL, Chen D, Bradley ME, Chen SJ, Lee TC. 1997. Yeast two-hybrid cloning of a novel zinc finger protein that interacts with the multifunctional transcription factor YY1. Nucleic Acids Res 25:843-849.
7. Kazerounian S, Aho S. 2003. Characterization of periphilin, a widespread, highly insoluble nuclear protein and potential constituent of the keratinocyte cornified envelope. J Biol Chem 278:36707-36717.
8. Klein OD, Cotter PD, Schimidt AM, Bick DP, Tidyman WE, Albertson DG, Pinkel D, Rauen KA. 2005. Interstitial deletion of chromosome 12q: Genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization. Am J Med Genet Part A 138A:349-354.
9. Meinecke P, Meinecke R. 1987. Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q. J Med Genet 24:187.
10. Miyake N, Yonoki H, Gallego M, Harada N, Shimokawa O. 2004. Phenotype-genotype correlation in two patients with 12q proximal deletion. J Hum Genet 49:282-284.
11. Perez Sanchez C, Ayensa F, Iloveras E, Zamora L, Cirigliano V, Perez E, Plaja A, 2004. Prenatal diagnosis of an interstitial 12q chromosome deletion. Ann Genet 47:177-179.
12. Petek E, Windpassinger C, Mach M, Rauter L, Scherer SW, Wagner K, Kroisel PM. 2003. Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: Confirmation and refinement of the DFNA25 locus. Am J Med Genet Part A 117A:122-126.
13. Plotner PL, Smith JL, Northrup H. 2003. Deletion 12q: A second patient with 12q24.31q24.32 deletion. Am J Med Genet Part A 118A:350-352.
14. Rapley EA, Hargrave D, Persinguhe N, Barfoot R, Moore I, Radford M, Stratton MR, Rahman N, Pritchard-Jones K. 2001. Case of interstitial 12q deletion in association with Wilms tumor. Am J Hum Genet 104:246-249.
15. Rauen KA, Cotter PD, Bitts SM, Cox VA, Golabi M. 2000. Cardiofacio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: Identification of a candidate region for CFC syndrome. Am J Med Genet 93:219-222.
16. Rauen KA, Albertson DG, Pinkel D, Cotter PD. 2002. Additional patient with del (12)(q21.2q22): Further evidence for a candidate region for cardio-facio-cutaneous syndrome? Am J Med Genet 110:51-56.
17. Sathya P, Tomkins DJ, Freeman V, Paes B, Nowaczyk MJ. 1999. De novo deletion 12q: Report of a patient with 12q24.31q24.33 deletion. Am J Med Genet 84:116-119.
18. Shimojo M, Hersh LB. 2006. Characterization of the REST/NRSF-interacting LIM domain protein (RILP): Localization and interaction with REST/NRSF. J Neurochem 96:1130-1138.
19. Stanton SE, McReynolds LJ, Evans T, Schreiber-Agus N. 2006. Yaf2 inhibits caspase 8-mediated apoptosis and regulates cell survival during zebrafish embryogenesis. J Biol Chem 281:28782-28793.
20. Tonoki H, Saitoh S, Kobayashi K. 1998. Patient with del(12)(q12q13-12) manifesting abnormalities compatible with Noonan syndrome. Am J Med Genet 75:416-418.
21. Watson MS, McAllister-Barton L, Mahoney MJ, Breg WR. 1989. Deletion (12)(q15q21.2). J Med Genet 26:343-344.