Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays

American Journal of Medical Genetics, Part A

Volumn 146, Issue 3, 2008, Pages 368-375

  Li, Marilyn M ^a,b   Nimmakayalu, Manjunath A ^b   Mercer, Danielle ^a   Andersson, Hans C ^a   Emanuel, Beverly S ^b  

^a TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

15q26 microdeletion; Chromosome microdeletion; Developmental delay; Microarray CGH

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 15Q; CHROMOSOME 22Q; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION 15; CHROMOSOME TRANSLOCATION 22; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; GENE EXPRESSION; GROWTH RETARDATION; HUMAN; MICROARRAY ANALYSIS; PHENOTYPE; PRIORITY JOURNAL;

BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 22; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; GENE EXPRESSION PROFILING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SEQUENCE DELETION; TRANSLOCATION, GENETIC;

EID: 38949109410     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32116     Document Type: Article

References (21)

1. Bhakta KY, Marlin SJ, Shen JJ, Fernandes CJ. 2005. Terminal deletion of chromosome 15q26.1: Case report and brief literature review. J Perinatol 25:429-432.
2. Budarf ML, Collins J, Gong W, Roe B, Wang Z, Bailey LC, Sellinger B, Michaud D, Driscoll DA, Emanuel BS. 1995. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nat Genet 10:269-278.
3. Butler MG, Fogo AB, Fuchs DA, Collins FS, Dev VG, Phillips JA III. 1988. Two patients with ring chromosome 15 syndrome. Am J Med Genet 29:149-154.
4. Faivre L, Gosset P, Cormier-Daire V, Odent S, Amiel J, Giurgea I, Nassogne M, Pasquier L, Munnich A, Romana S, Prieur M, Vekemans M, de Blois M, Turleau C. 2002. Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: Report of two families and review of the literature. Eur J Hum Genet 10:699-706.
5. Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LW, Morris AA, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RH, Kelly DA, Maher ER. 2004. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet 36:400-404.
6. Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, Cotter PD. 2006. Ring chromosome 15: Characterization by array CGH. Hum Genet 118:611-617.
7. Jacobsen P. 1966. A ring chromosome in the 13-15group associated with microcephalic dwarfism, mental retardation and emotional immaturity. Hereditas 55:188-191.
8. Kato R, Kishibayashi J, Shimokawa O, Harada N, Niikawa N, Matsumoto N. 2001. Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q. Am J Med Genet 104:319-322.
9. Klaassens M, van Dooren M, Eussen HJ, Douben H, den Dekker AT, Lee C, Donahoe PK, Galjaard RJ, Goemaere N, de Krijger RR, Wouters C, Wauters J, Oostra BA, Tibboel D, de Klein A. 2005. Congenital diaphragmatic hernia and chromosome 15q26: Determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. Am J Hum Genet 76:877-882.
10. Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH. 1996. Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Am J Med Genet 66:77-80.
11. Kurahashi H, Shaikh T, Takata M, Toda T, Emanuel BS. 2003. The constitutional t(17;22): Another translocation mediated by palindromic AT-rich repeats. Am J Hum Genet 72:733-738.
12. Martin F, Platt J, Tawn EJ, Burn J. 1990. A de novo interstitial deletion of 15(q21.2q22.1) in a moderately retarded adult male. J Med Genet 27:637-639.
13. Matsunaga E, Nakamura H, Chedotal A. 2006. Repulsive guidance molecule plays multiple roles in neuronal differentiation and axon guidance. J Neurosci 26:6082-6088.
14. Mercer D, Dvorak C, Techakittiroj C, Andersson H, Dise D, Li MM. 2005. Molecular cytogenetic study of a 45, X male with cryptic Y/15 translocation and deletion of IGF1R gene. The American Society of Human Genetics, 55th Annual Meeting A835.
15. Nimmakayalu M, Henegariu O, Ward DC, Bray-Ward P. 2000. Simple method for preparation of fluor/hapten-labeled dUTP. Biotechniques 28:518-522.
16. Shaikh TH, Budarf ML, Celle L, Zackai EH, Emanuel BS. 1999. Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. Am J Hum Genet 65:1595-1607.
17. Slavotinek A, Lee SS, Davis R, Shrit A, Leppig KA, Rhim J, Jasnosz K, Albertson D, Pinkel D. 2005. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet 42:730-736.
18. Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptacek L, Pennacchio LA. 2006. Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: Mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. Eur J Hum Genet 14:999-1008.
19. Spruijt L, Engelen JJ, Bruinen-Smeijsters IP, Albrechts JC, Schrander J, Schrander-Stumpel CT. 2004. A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises. Am J Med Genet Part A 129A:312-315.
20. Tonnies H, Schulze I, Hennies H, Neumann LM, Keitzer R, Neitzel H. 2007. De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes. J Med Genet 38:617-621.
21. Tumer Z, Harboe TL, Blennow E, Kalscheuer VM, Tommerup N, Brondum-Nielsen K. 2004. Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients. Am J Med Genet Part A 130A:340-344.