Cryptic duplication of 12q24.33 → qter in a child with Angelman Syndrome - Simultaneous occurrence of two unrelated cytogenetic events

American Journal of Medical Genetics, Part A

Volumn 143, Issue 9, 2007, Pages 985-994

  Sathanoori, M ^a   Hu, J ^b,e   Murthy, V ^a   Byrnes, A ^a   Vockley, J ^c   Safier, R ^c   Bedoyan, J ^c   Jalal, S M ^d   Huber, H ^e   Surti, U ^a,b,e,f  

^a UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^c CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^d MAYO CLINIC   (United States)

^e UNIVERSITY OF PITTSBURGH   (United States)

^f UNIVERSITY OF PITTSBURGH   (United States)

Author keywords

12q duplication; Angelman syndrome; Array CGH; Cryptic rearrangement; Fish

Indexed keywords

ANAMNESIS; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CEREBRAL PALSY; CHROMOSOME 12Q; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CLINICAL EXAMINATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MAPPING; GENETIC COUNSELING; HAPPY PUPPET SYNDROME; HUMAN; KARYOTYPE 46,XY; MALE; MICROCEPHALY; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE;

ANGELMAN SYNDROME; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 12; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE;

BACTERIA (MICROORGANISMS);

EID: 34247860748     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31682     Document Type: Article

References (40)

1. Banu Y, Matsuda M, Yoshihara M, Kondo M, Sutou S, Matsukuma S. 2002. Golgi matrix protein gene, Golga3/Mea2, rearranged and re-expressed in pachytene spermatocytes restores spermatogenesis in the mouse. Mol Reprod Dev 61:288-301.
2. Bao L, Schorry EK. 2005. A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother. Am J Med Genet Part A 138A: 361-364.
3. Bejjani BA, Saleki R, Ballif BC, Rorem EA, Sundin K, Theisen A, Kashork CD, Shaffer LG. 2005. Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more? Am J Med Genet Part A 134A:259-267.
4. Chen CP, Chern SR, Lin CC, Wang TH, Li YC, Hsieh LJ, Lee CC, Hua HM, Wang W. 2006. Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32 → qter) and partial monosomy 21q(21q22.2 → qter). Prenat Diagn 26: 313-320.
5. Clayton-Smith J, Laan L. 2003. Angelman syndrome: A review of the clinical and genetic aspects. J Med Genet 40:87-95.
6. de Muelenaere A, Fryns JP, Van Den Berghe H. 1980. Partial distal 12q trisomy. Ann Genet 23:251-253.
7. Flint J, Knight S. 2003. The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation. Curr Opin Genet Dev 13:310-316.
8. Harrod MJ, Byrne JB, Dev VG, Francke U. 1980. Duplication 12q mosaicism in two unrelated patients with a similar syndrome. Am J Med Genet 7:123-129.
9. Hemming L, Brown R. 1979. Partial trisomy 12q associated with a familial translocation. Clin Genet 16:25-28.
10. Hirschhorn K, Lucas M, Wallace I. 1973. Precise identification of various chromosomal abnormalities. Ann Hum Genet 36: 375-379.
11. Hobolth N, Jacobsen P, Mikkelsen M. 1974. Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother. J Med Genet 11:299-303.
12. Ireland JW, Jalal SM, McGrann PS, Lindor NM. 2004. Nonmosaic smallest duplication of 12q24.31-qter: The first reported case. Am J Med Genet Part A 128A:305-310.
13. Jardine PE, Burvill-Holmes LC, Schutt WH, Lunt PW. 1993. Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome. Clin Dysmorphol 2:269-273.
14. Jones KL. 1997. Smith's recognizable patterns of human malformations. Philadelphia: W.B. Saunders. p 200-201.
15. 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.
16. Koiffmann CP, Gonzalez CH, Vianna-Morgante AM, Kim CA, Odone-Filho V, Wajntal A. 1995. Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q. Am J Med Genet 58:46-49.
17. Lukusa T, Holvoet M, Vermeesch JR, Devriendt K, Fryns JP. 2003. Partial monosomy 11q and trisomy 12q: Variable expression in two siblings. Genet Couns 14:155-164.
18. MacDonald EA, Holden JJ. 1985. Duplication 12q24 → qter in an infant with Dandy-Walker syndrome. J Neurogenet 2:123-129.
19. Macina RA, Morii K, Hu XL, Negorev DG, Spais C, Ruthig LA, Riethman HC. 1995. Molecular cloning and RARE cleavage mapping of human 2p, 6q, 8q, 12q, and 18q telomeres. Genome Res 5:225-232.
20. McCorquodale MM, Rolf J, Ruppert ES, Kurczynski TW, Kolacki P. 1986. Duplication (12q) syndrome in female cousins, resulting from maternal (11;12) (p15.5;q24.2) translocations. Am J Med Genet 24:613-622.
21. Melnyk AR, Weiss L, Van Dyke DL, Jarvi P. 1981. Malformation syndrome of duplication 12q24.1 leads to qter. Am J Med Genet 10:357-365.
22. Ning Y, Roschke A, Smith ACM, Macha M, Precht K, Riethman H, Ledbetter DH, Flint J, Horsley S, Regan R, et al. 1996. A complete set of human telomeric probes and their clinical application. Nature Genetics 14:86-89.
23. Paoloni-Giacobino A, Chaillet JR. 2004. Genomic imprinting and assisted reproduction. Reprod Health 1:6.
24. Peng HH, Wang TH, Hsueh DW, Chang SD, Soong YK. 2005. Prenatal diagnosis of partial trisomy 12q: Clinical presentations and outcome. Prenat Diagn 25:470-474.
25. Pratt NR, Bulugahapitiya DT. 1983. Partial trisomy 12q: A clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q. J Med Genet 20:86-89.
26. Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL. 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.
27. Roberts SH, Mattina T, Laurence KM, Sorge G, Pavone L. 1981. Partial trisomy 12q: Report of a case and review. J Med Genet 18:470-473.
28. Rodriguez L, Martinez Guardia N, Herens C, Jamar M, Verloes A, Lopez F, Santos Munoz J, Martinez-Frias ML. 2003. Subtle trisomy 12q24.3 and subtle monosomy 22q13-3: Three new cases and review. Am J Med Genet Part A 122A:119-124.
29. Schoumans J, Sanner G, Nordenskjold M, Anderlid BM. 2005. Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33:q25.3). Am J Med Genet Part A 134A:254-258.
30. Speleman F, Van Roy N, De Vos E, Hilliker C, Suijkerbuijk RF, Leroy JG. 1993. Molecular cytogenetic analysis of a familial pericentric inversion of chromosome 12. Clin Genet 44:156-163.
31. Stratton RF, Dobyns WB, Airhart SD, Ledbetter DH. 1984. New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet 67:193-200.
32. Tajara EH, Varella-Garcia M, Gusson AC. 1985. Partial trisomy 12q24.31-qter. J Med Genet 22:73-76.
33. Tengstrom C, Wilska M, Kahkonen M, Autio S, Leisti J. 1985. Partial trisomy 12q: Clinical and cytogenetic observations. Clin Genet 28:112-117.
34. Thompson JR, Williams CJ. 2005. Genomic imprinting and assisted reproductive technology: Connections and potential risks. Semin Reprod Med 23:285-295.
35. Tsai AC, Gibby T, Beischel L, McGavran L, Johnson JP. 2004. A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13. Am J Med Genet Part A 120A:208-212.
36. Williams CA. 2001. Angelman Syndrome. In: Allanson JE, editor. Management of Genetic Syndromes. New York: Wiley-Liss. p 33-47.
37. Wilson CJ, Oei PT. 1998. The use of a specific clinical history in counselling a family with the balanced translocation 46,XY,t(4;12)(p15.2;q21.3): Viable offspring with partial monosomy 4p and trisomy 12q. Clin Genet 54:110-111.
38. Yu S, Baker E, Hinton L, Eyre HJ, Waters W, Higgins S, Sutherland GR, Haan E. 2005a. Frequency of truly cryptic subtelomere abnormalities-A study of 534 patients and literature review. Clin Genet 68:436-441.
39. Yu X, Minter-Dykhouse K, Malureanu L, Zhao WM, Zhang D, Merkle CJ, Ward IM, Saya H, Fang G, van Deursen J, et al'. 2005b. Chfr is required for tumor suppression and Aurora A regulation. Nat Genet 37:401-406.
40. Zabel B, Baumann W. 1981. Partial trisomy 12q. J Med Genet 18: 144-146.