Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: Case report and review of triplications and their possible mechanism

American Journal of Medical Genetics

Volumn 82, Issue 4, 1999, Pages 312-317

  Wang, Jun ^a   Reddy, Kavita S ^b   Wang, Endi ^a   Halderman, Lori ^a   Morgan, Brian L G ^a   Lachman, Ralph S ^a   Lin, Henry J ^a,c   Cornford, Marcia E ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^c HARBOR UCLA MEDICAL CENTER   (United States)

Author keywords

2q11.2 q21; Chromosome 2; Intrachromosomal triplication; Partial tetrasomy

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 2Q; CHROMOSOME REARRANGEMENT; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN TISSUE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PRIORITY JOURNAL; TETRASOMY;

ABNORMALITIES, MULTIPLE; ANEUPLOIDY; BONE AND BONES; BRAIN; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 2; CLEFT PALATE; FEMALE; GENE DOSAGE; HAND DEFORMITIES, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MODELS, GENETIC; POLYCYSTIC KIDNEY DISEASES;

EID: 0033590671     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990212)82:4<312::AID-AJMG7>3.0.CO;2-9     Document Type: Article

References (18)

1. Batanian R, Chen X, Grange DK. 1994. Mosaic isodicentric chromosome 9 with triplication (9p22-pter) and no deletion in an abnormal infant presenting with clinical features of trisomy 9: a new type of isodicentric chromosome formation. Am J Hum Genet 55:A98.
2. Cassidy SB, Conroy J, Becker L, Schwartz S. 1996. Paternal triplication of 15q11-q13 in a hypotonic, developmentally delayed child without Prader-Willi or Angelman syndrome. Am J Med Genet 62:205-212.
3. Chadwick D, Strasberg PM, Farrell S. 1996. Intrachromosomal triplication of proximal 15q. Am J Hum Genet 59:A114.
4. Cooke LB, Richards H, Lunt PW, Burvill-Holmes L, Howell RT, McDermott A. 1995. Duplication 2 (q11.2-q21): a previously unreported abnormality. J Med Genet 32:825-826.
5. Crawford EC, Lethco BA, Bealer D, Schroer RJ, Clarkson KB, Phelan MC. 1995. Interstitial duplication and triplication of 15q11-q13 confirmed by fluorescence in situ hybridization. Am J Hum Genet 57:A111.
6. Glass IA, Stormer P, Oei PTSP, Hacking E, Cotter PD. 1998. Trisomy 2q11.26→q21.1 resulting from an unbalanced insertion in two generations. J Med Genet 35:319-322.
7. Harrison KJ, Teshima IE, Silver MM, Jay V, Unger S, Robinson WP, James A, Levin A, Chitayat D. 1998. Partial tetrasomy with triplication of chromosome (5) (p14-15.33) in a patient with severe multiple congenital anomalies. Am J Med Genet 79:103-107.
8. Holowinsky S, Black SH, Howard-Peebles PN, Mutirangura A, Christian S, Ledbetter DH, Reynolds J. 1993. Triplication 15q11-13 in two unrelated patients with hypotonia, cognitive delays and visual impairment. Am J Hum Genet 53:A125.
9. Long FL, Duckett DP, Billam LJ, Williams DK, Crolla JA. 1998. Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay. J Med Genet 35:425-428.
10. Martinez-Frias ML, Frias JL. 1997. Primary developmental field III: Clinical and epidemiological study of blastogenetic anomalies and their relationship to different MCA patterns. Am J Med Genet 70:11-15.
11. Mu Y, Van Dyke DL, Weiss L, Olgac S. 1984. De novo direct tandem duplication of the proximal long arm of chromosome 2: 46, XX, dir dup(2)(q11.2q14.2). J Med Genet 21:57-58.
12. Opitz JM. 1993. Blastogenesis and the "primary field" in human development. In: Opitz JM, Paul NW, editors. Blastogenesis: normal and abnormal. New York: Wiley-Liss. p 3-37.
13. Rauch A, Pfeiffer RA, Trautmann U. 1996. Deletion or triplication of the α3(VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders. Clin Genet 49:279-285.
14. Rivera H, Bobadilla L, Rolon A, Kunz J, Crolla JA. 1998. Intrachromosomal triplication of distal 7p. J Med Genet 35:78-80.
15. Schinzel AA, Brecevic L, Bernasconi F, Binkert F, Berthet F, Wuilloud A, Robinson WP. 1994. Intrachromosomal triplication of 15q11-q13. J Med Genet 31:798-803.
16. Singer DB, Sung CJ, Wigglesworth JS. 1991. Fetal growth and maturation: With standards for body and organ development. In: Wigglesworth JS, Singer DB, editors. Textbook of Fetal and Perinatal Pathology. Boston: Blackwell Scientific Publications. p 11-47.
17. Slizynska H. 1968. Triplications and the problem of non-homologous crossing-over. Genet Res 11:201-208.
18. Stocker JT, Dehner LP. 1992. Pediatric Pathology. Philadelphia: J.B. Lippincott Company. p 1298-1299.