Subtelomeric deletion of 12p: Description of a third case and review

American Journal of Medical Genetics, Part A

Volumn 152, Issue 6, 2010, Pages 1561-1566

  MacDonald, A H ^a   Rodriguez L ^a   Acena I ^a   Martinez Fernandez M L ^a,b   Sanchez Izquierdo D ^a   Zuazo, E ^c   Martinez Frias M L ^a,b,d  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL DE ZUMÁRRAGA   (Spain)

^d UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

Author keywords

Chromosome 12p; JARID1A; Multiplex ligation dependent probe amplification; Subtelomeric deletion

Indexed keywords

ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CHILD; CHROMOSOME 12P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; DISEASE CARRIER; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; HUMAN; JARID1A GENE; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; TELOMERE;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; HUMANS; MALE; MENTAL RETARDATION; MICROCEPHALY; SYNDROME; TELOMERE;

EID: 77952748433     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33401     Document Type: Article

References (20)

1. Baker E, Hinton L, Callen D, Haan E, Dobbie A, Sutherland G. 2002. A familial cryptic subtelomeric deletion 12p with variable phenotypic effect. Clin Genet 61:198-201. (Pubitemid 36372632)
2. Baroncini A, Avellini C, Neri C, Forabosco A. 1990. Distal 12p deletion in a stillborn infant. Am J Med Genet 36:358-360. (Pubitemid 20193748)
3. Boilly-Dartigalongue B, Riviere D, Junien C, Couturier J, Toudic L, Marie F, Castel Y. 1985. Etude d'un noveau cas de monosomie partielle du chromosome 12,del(12)(p11.01-p12.109) confirmant la localisation du gene de la lactico-deshydrogenase B. Ann Genet 28:55-57.
4. Defeo-Jones D, Huang P, Jones R, Haskell K, Vuocolo G, Hanobik M, Huber H, Oliff A. 1991. Cloning of cDNAs for cellular proteins thats bind to the retinoblastoma gene product. Nature 352:251-254. (Pubitemid 21912329)
5. Flint J, Wilkie A, Buckle V, Winter R, Holland A, McDermid H. 1995. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 9:132-140.
6. Kivlin J, Fineman R, Williams M. 1985. Phenotypic variation in the del(12p) syndrome. Am J Med Genet 22:769-779.
7. Knight SJ, Regan R, Nicod A, Horsley S, Kearney L, Homfray T, Winter R, Bolton P, Flint J. 1999. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-1681. (Pubitemid 29533057)
8. Lafrenière R, MacDonald M, Dubé M, MacFarlane J, O'Driscoll M, Brais B, Meilleur S, Brinkman R, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio A, Davar G, Breakefield X, Pimstone S, Green R, Pryse-Phillips W, Goldberg P, Younghusband B, Hayden M, Sherrington R, Rouleau G, Samuels M. 2004. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet 74:1064-1073. (Pubitemid 38568977)
9. Laurent C, Nivelon A, Harman C, Guerrier G. 1968. Monosomie partielle d'un chromosome du groupe C: (Cp-). Ann Genet 11:231-235.
10. Magnelli N, Therman E. 1975. Partial 12p deletion: A cause for a mental retardation, multiple congenital abnormality syndrome. J Med Genet 12:105-108.
11. Magnenis E, Brown MG, Chamberlin J, Donlon T, Hepburn D, Lamvik N, Lovrien E, Yoshitomi M, Opitz J. 1981. Resolution of breakpoints in a complex rearrangement by use of multiple staining techniques: Confirmation of suspected12p. 3 intraband by deletion dosage effect of LDHB. Am J Med Genet 9:95-103. (Pubitemid 11112531)
12. Malpeuch G, Kaplan J, Rethore M, Junien C, Geneix A. 1975. Une observation de deletion partielle du bras court du chromosome 12. Lyon Méd Genet 233:275-279.
13. Mayeda K, Weiss L, Lindahl R, Dully M. 1974. Localization of the human lactase dehydrogenase B gene on the short arm of chromosome 12. Am J Hum Genet 26:59-64.
14. Newhouse S, Wallace C, Dobson R, Mein C, Pembroke J, Farrall M, Clayton D, Brown M, Samani N, Dominiczak A, Connell J, Webster J, Lathrop M, Caulfield M, Munroe P. 2005. Haplotypes of the WNK1 gene associate with blood pressure variation in a severely hypertensive population from the British Genetics of Hypertension study. Hum Mol Genet 14:1805-1814. (Pubitemid 41418052)
15. Orye E, Craen M. 1975. Short arm deletion of chromosome 12: Report of two new cases. Hum Genet 28:335-342.
16. Ravnan J, Tepperberg J, Papenhausen P, Lamb A, Hedrick J, Eash D, Ledbetter D, Martin C. 2006. Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 43:478-489. (Pubitemid 43927321)
17. Rodríguez L, Martínez-Fernández ML, Mansilla E, Mendioroz J, Arteaga RM, Toral JF, Guardia NM, García A, Centeno F, Pantoja J, Jovani C, Martínez-Frías ML. 2008. Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects. Clin Dysmorphol 17:5-12.
18. Romain D, Goldsmith J, Columbano-Green L, Chapman C, Smythe R, Parfitt R. 1987. Partial monosomy 12p13.1-13.3. J Med Genet 24:434-436.
19. Tenconi R, Baccichetti C, Anglani F, Pellegrino P, Kaplan J, Junien C. 1975. Partial deletion of the shortarmofchromosome 12(p11; p13). Report of a case. Ann Genet 18:95-98.
20. Velinov M, Beldia G, Gu H, Tsiouris J, Jenkins E, Brown T. 2008. Psychotic manifestations in a patient with mental retardation and a 6.2 megabase deletion at the distal short arm of chromosome 12. CNS Spectr 13:515-519. (Pubitemid 351960776)