12p13 rearrangements: 6Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 5, 2012, Pages 1071-1076

  Madrigal, Irene ^a,b   Martinez, Margarita ^c   Rodriguez Revenga, Laia ^a,b   Carrió, Ana ^b   Milà, Montserrat ^a,b  

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

^b HOSPITAL CLÍNIC   (Spain)

^c HOSPITAL UNIVERSITARIO VIRGEN DE LAS NIEVES   (Spain)

Author keywords

12p13 deletion; 12p13 duplication; Familial translocation, aCGH; Intellectual disabilities

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHILD; CHROMATID ABERRATION; CHROMOSOME 22P; CHROMOSOME DELETION; CHROMOSOME DELETION 12P; CHROMOSOME DUPLICATION; CHROMOSOME DUPLICATION 12P; CHROMOSOME REARRANGEMENT; CHROMOSOME RECIPROCAL TRANSLOCATION; CHROMOSOME TRANSLOCATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEEDING DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC MODEL; GENETIC RECOMBINATION; GENETIC RISK; GROWTH RETARDATION; HETEROZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; MALE; MICROCEPHALY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE HYPOTONIA; PARTIAL MONOSOMY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; CHROMOSOME 12; FAMILY; GENE DELETION; GENE REARRANGEMENT; GENE TRANSLOCATION; GENETICS; SEGMENTAL DUPLICATION;

CHROMOSOMES, HUMAN, PAIR 12; FAMILY; GENE REARRANGEMENT; HUMANS; INTELLECTUAL DISABILITY; SEGMENTAL DUPLICATIONS, GENOMIC; SEQUENCE DELETION; TRANSLOCATION, GENETIC;

EID: 84859938474     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35287     Document Type: Article

References (23)

1. Allen TL, Brothman AR, Carey JC, Chance PF. 1996. Cytogenetic and molecular analysis in trisomy 12p. Am J Med Genet 63: 250-256.
2. Baker E, Hinton L, Callen DF, Haan EA, Dobbie A, Sutherland GR. 2002. A familial cryptic subtelomeric deletion 12p with variable phenotypic effect. Clin Genet 61: 198-201.
3. Baroncini A, Avellini C, Neri C, Forabosco A. 1990. Distal 12p deletion in a stillborn infant. Am J Med Genet 36: 358-360.
4. Chen JM, Cooper DN, Ferec C, Kehrer-Sawatzki H, Patrinos GP. 2010. Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol 20: 222-233.
5. De Braekeleer M, Dao TN. 1991. Cytogenetic studies in male infertility: A review. Hum Reprod 6: 245-250.
6. Faraut T, Mermet MA, Demongeot J, Cohen O. 2000. Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations. Cytogenet Cell Genet 88: 15-21.
7. Glass IA, Trenholme A, Mildenhall L, Bailey RJ, Cotter PD. 2000. Mild phenotype in two siblings with distal monosomy 12p13.31->pter. Clin Genet 57: 401-405.
8. Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y, et al. 2004. Subtelomere specific microarray based comparative genomic hybridisation: A rapid detection system for cryptic rearrangements in idiopathic mental retardation. J Med Genet 41: 130-136.
9. Kivlin JD, Fineman RM, Williams MS. 1985. Phenotypic variation in the del(12p) syndrome. Am J Med Genet 22: 769-779.
10. Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J. 1999. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354: 1676-1681.
11. Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, Kets M, Vermeer S, van Ravenswaaij CM, de Kovel CG, Brunner HG, et al. 2004. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet 41: 892-899.
12. Morel F, Douet-Guilbert N, Roux C, Tripogney C, Le Bris MJ, De Braekeleer M, Bresson JL. 2004. Meiotic segregation of a t(7;8)(q11.21;cen) translocation in two carrier brothers. Fertil Steril 81: 682-685.
13. Neri G, Serra A, Campana M, Tedeschi B. 1983. Reproductive risks for translocation carriers: Cytogenetic study and analysis of pregnancy outcome in 58 families. Am J Med Genet 16: 535-561.
14. Nielsen J, Friedrich U, Hreidarsson AB. 1974. Frequency of deletion of short arm satellites in acrocentric chromosomes. J Med Genet 11: 177-180.
15. Rauch A, Trautmann U, Pfeiffer RA. 1996. Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome." Am J Med Genet 63: 243-249.
16. Rodriguez-Revenga L, Badenas C, Sanchez A, Mallolas J, Carrio A, Pedrinaci S, Barrionuevo JL, Mila M. 2004. Cryptic chromosomal rearrangement screening in 30 patients with mental retardation and dysmorphic features. Clin Genet 65: 17-23.
17. Rooms L, Reyniers E, Wuyts W, Storm K, van Luijk R, Scheers S, Wauters J, van den Ende J, Biervliet M, Eyskens F, et al. 2006. Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics. Clin Genet 69: 58-64.
18. Rooryck C, Stef M, Burgelin I, Simon D, Souakri N, Thambo JB, Chateil JF, Lacombe D, Arveiler B. 2009. 2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene. Eur J Med Genet 52: 446-449.
19. Ruiter EM, Koolen DA, Kleefstra T, Nillesen WM, Pfundt R, de Leeuw N, Hamel BC, Brunner HG, Sistermans EA, de Vries BB. 2007. Pure subtelomeric microduplications as a cause of mental retardation. Clin Genet 72: 362-368.
20. Shi Q, Martin RH. 2001. Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction 121: 655-666.
21. Trautmann U, Pfeiffer RA. 1994. Interstitial deletion 12p13.1-13.3 in a mildly retarded infant with unilateral ectrodactyly. Ann Genet 37: 147-149.
22. Zelante L, Calvano S, Dallapiccola B, Mingarelli R, Antonacci R, Chiovato L, Rocchi M. 1994. Patient with de novo 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybrids. Clin Genet 46: 368-371.
23. Zumkeller W, Volleth M, Muschke P, Tonnies H, Heller A, Liehr T, Wieacker P, Stumm M. 2004. Genotype/phenotype analysis in a patient with pure and complete trisomy 12p. Am J Med Genet 129A: 261-264.