Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype

American Journal of Medical Genetics, Part A

Volumn 146, Issue 15, 2008, Pages 1967-1971

  Izumi, Kosuke ^a   Yamashita, Yukio ^b   Aramaki, Michihiko ^a   Kosaki, Rika ^c   Hosokai, Noboru ^d   Takahashi, Takao ^a   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KAWASAKI MUNICIPAL HOSPITAL   (Japan)

^c NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^d LSI MEDIENCE CORPORATION   (Japan)

Author keywords

Analphoid marker; Inverted duplication; Marker chromosome; Neocentromere marker; Supernumerary marker

Indexed keywords

ANAMNESIS; ANTEVERTED NOSTRIL; ARTICLE; CASE REPORT; CENTROMERE; CHROMOSOME 3Q; CHROMOSOME DUPLICATION; CLINICAL FEATURE; EAR MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC MARKER; GESTATIONAL AGE; GROWTH RETARDATION; HIRSUTISM; HUMAN; MENTAL DEFICIENCY; NEOCENTROMERE MARKER; NEWBORN; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; CHROMOSOME 3; CHROMOSOME ANALYSIS; CHROMOSOME INVERSION; DEVELOPMENTAL DISORDER; DNA MICROARRAY; GENE DUPLICATION; GENETICS; GENOME; KARYOTYPING; MOSAICISM; MULTIPLE MALFORMATION SYNDROME; PRESCHOOL CHILD;

ABNORMALITIES, MULTIPLE; CENTROMERE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 3; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; FEMALE; GENE DUPLICATION; GENETIC MARKERS; GENOME, HUMAN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; KARYOTYPING; MENTAL RETARDATION; MOSAICISM; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE;

EID: 49649092028     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32120     Document Type: Article

References (27)

1. Alonso A, Mahmood R, Li S, Cheung F, Yoda K, Warburton PE. 2003. Genomic microarray analysis reveals distinct locations for the CENP-A binding domains in three human chromosome 13q32 neocentromeres. Hum Mol Genet 12:2711-2721.
2. Amor DJ, Choo KH. 2002. Neocentromeres: Role in human disease, evolution, and centromere study. Am J Hum Genet 71:695-714.
3. Aqua MS, Rizzu P, Lindsay EA, Shaffer LG, Zackai EH, Overhauser J, Baldini A. 1995. Duplication 3q syndrome: Molecular delineation of the critical region. Am J Med Genet 55:33-37.
4. Barbi G, Spaich C, Adolph S, Kehrer-Sawatzki H. 2003. Analphoid de novo marker chromosome inv dup(3)(q28qter) with neocentromere in a dysmorphic and developmentally retarded girl. J Med Genet 40:e27.
5. Cai WW, Mao JH, Chow CW, Damani S, Balmain A, Bradley A. 2002. Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays. Nat Biotechnol 20:393-396.
6. Callen DF, Eyre H, Yip MY, Freemantle J, Haan EA. 1992. Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes. Am J Med Genet 43:709-715.
7. Cheung J, Estivill X, Khaja R, MacDonald JR, Lau K, Tsui LC, Scherer SW. 2003. Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence. Genome Biol 4:R25.
8. Cockwell AE, Gibbons B, Moore IE, Crolla JA. 2000. An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations. J Med Genet 37:807-809.
9. Faas BH, De Vries BB, Van Es-Van Gaal J, Merkx G, Draaisma JM, Smeets DF. 2002. A new case of dup(3q) syndrome due to a pure duplication of 3qter. Clin Genet 62:315-320.
10. Giglio S, Broman KW, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire L, Larizza D, Giorda R, Weber JL, Ledbetter DH, Zuffardi O. 2001. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 68:874-883.
11. Gimelli G, Zuffardi O, Giglio S, Zeng C, He D. 2000. CENP-G in neocentromeres and inactive centromeres. Chromosoma 109:328-333.
12. Liehr T, Starke H, Senger G, Melotte C, Weise A, Vermeesch JR. 2005. Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC. Am J Med Genet Part A 140A:46-51.
13. Nielsen J, Wohlert M. 1991. Chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark. Hum Genet 87:81-83.
14. Ohashi H, Wakui K, Ogawa K, Okano T, Niikawa N, Fukushima Y. 1994. A stable acentric marker chromosome: Possible existence of an intercalary ancient centromere at distal 8p. Am J Hum Genet 55:1202-1208.
15. Portnoi MF, Boutchnei S, Bouscarat F, Morlier G, Nizard S, Dersarkissian H, Crickx B, Nouchy M, Taillemite JL, Belaich S. 1999. Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q. J Med Genet 36:246-250.
16. Rizzu P, Haddad BR, Vallcorba I, Alonso A, Ferro MT, Garcia-Sagredo JM, Baldini A. 1997. Delineation of a duplication map of chromosome 3q: A new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region. Am J Med Genet 68:428-432.
17. Rowe AG, Abrams L, Qu Y, Chen E, Cotter PD. 2000. Tetrasomy 15q25-
18. Schinzel A. 1993. Karyotype-phenotype correlations in autosomal chromosomal aberrations. Prog Clin Biol Res 384:19-31.
19. Slater HR, Nouri S, Earle E, Lo AW, Hale LG, Choo KH. 1999. Neocentromere formation in a stable ring 1p32-p36.1 chromosome. J Med Genet 36:914-918.
20. Spiegel M, Hickmann G, Senger G, Kozlowski P, Bartsch O. 2003. Two new cases of analphoid marker chromosomes. Am J Med Genet Part A 116A:284-289.
21. Sullivan BA, Schwartz S. 1995. Identification of centromeric antigens in dicentric Robertsonian translocations: CENP-C and CENP-E are necessary components of functional centromeres. Hum Mol Genet 4:2189-2197.
22. Teshima I, Bawle EV, Weksberg R, Shuman C, Van Dyke DL, Schwartz S. 2000. Analphoid 3qter markers. Am J Med Genet 94:113-119.
23. Ventura M, Mudge JM, Palumbo V, Burn S, Blennow E, Pierluigi M, Giorda R, Zuffardi O, Archidiacono N, Jackson MS, Rocchi M. 2003. Neocentromeres in 15q 24-26map to duplicons which flanked an ancestral centromere in 15q25. Genome Res 13:2059-2068.
24. Ventura M, Weigl S, Carbone L, Cardone MF, Misceo D, Teti M, D'Addabbo P, Wandall A, Bjorck E, de Jong PJ, She X, Eichler EE, Archidiacono N, Rocchi M. 2004. Recurrent sites for new centromere seeding. Genome Res 14:1696-1703.
25. Wandall A, Tranebjaerg L, Tommerup N. 1998. A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores. Chromosoma 107:359-365.
26. Warburton PE, Dolled M, Mahmood R, Alonso A, Li S, Naritomi K, Tohma T, Nagai T, Hasegawa T, Ohashi H, Govaerts LC, Eussen BH, Van Hemel JO, Lozzio C, Schwartz S, Dowhanick-Morrissette JJ, Spinner NB, Rivera H, Crolla JA, Yu C, Warburton D. 2000. Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere. Am J Hum Genet 66:1794-1806.
27. Weaver BA, Bonday ZQ, Putkey FR, Kops GJ, Silk AD, Cleveland DW. 2003. Centromere-associated protein-E is essential for the mammalian mitotic checkpoint to prevent aneuploidy due to single chromosome loss. J Cell Biol 162:551-563.