Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay

American Journal of Medical Genetics

Volumn 137 A, Issue 1, 2005, Pages 59-64

  Von Beust, G ^a   Sauter, S M ^a   Liehr, T ^b   Burfeind, P ^a   Bartels, I ^a   Starke, H ^b   Von Eggeling, F ^b   Zoll, B ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

Author keywords

Congenital heart defect; Developmental delay; Dysmorphic signs; Mosaicism; Ring chromosome 7

Indexed keywords

ADULT; ARTICLE; CHROMOSOME 7; CONGENITAL HEART DISEASE; CYTOGENETICS; DEVELOPMENTAL DISORDER; FEMALE; HUMAN; MALE; NEWBORN; PARTIAL TRISOMY; PRIORITY JOURNAL; SISTER CHROMATID; SUPERNUMERARY CHROMOSOME; TETRASOMY;

ABNORMALITIES, MULTIPLE; ANEUPLOIDY; CHROMOSOMES, HUMAN, PAIR 7; DEVELOPMENTAL DISABILITIES; FACE; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; LIMB DEFORMITIES, CONGENITAL; MODELS, GENETIC; RING CHROMOSOMES;

EID: 23344442026     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30835     Document Type: Article

References (14)

1. Anderlid BM, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E. 2001. Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy. Am J Med Genet 99:223-233.
2. Blennow E, Annerén G, Bui T-H, Berggren E, Asadi E, Nordenskjöld M. 1993. Characterization of supernumerary ring marker chromosome by fluorescence in situ hybridization (FISH). Am J Hum Genet 53:433-442.
3. Blennow E, Nielsen KB, Telenius H, Carter NP, Kristoffersson U, Holmberg E, Gillberg C, Nordenskjold M. 1995. Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in sity hybridization. Am J Med Genet 55:85-94.
4. Daniel A, Malafiej P. 2003. A series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15. Am J Med Genet 117A:212-222.
5. Guy J, Hearn T, Crosier M, Mudge J, Viggiano L, Koczan D, Thiesen HJ, Bailey JA, Horvath JE, Eichler EE, Earthrowl ME, Deloukas P, French L, Rogers J, Bentley D, Jackson MS. 2003. Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p. Genome Res 13:159-172.
6. Jacobs PA. 1981. Mutation rates of structural chromosome rearrangements in man. Am J Hum Genet 33:44-54.
7. Jacobs PA. 1990. The role of chromosome abnormalities in reproductive failure. Reprod Nutr Dev 1(Suppl):63s-74s.
8. Miyoshi O, Kondoh T, Taneda H, Otsuka K, Matsumoto T, Niikawa N. 1999. 47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): Possible exclusion of the putative SRS gene from a 7p13-q11 region. J Med Genet 36:326-329.
9. Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic IF, Beensen V, Claussen U, Liehr T. 2001. A new multicolor-FISH approach for the characterization of marker chromosomes: Centromere-specific multicolor-FISH (cenM-FISH). Hum Genet 108:199-204.
10. Oliver-Bonet M, Liehr T, Nietzel A, Heller A, Starke H, Claussen U, Codina-Pascual M, Pujol A, Abad C, Egozcue J, Navarro J, Benet J. 2003. Karyotyping of human synaptonemal complexes by cenM-FISH. Eur J Hum Genet 11:879-883.
11. Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner R-D, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T. 2003. Small supernumerary marker chromosomes (SMC): Genotype-phenotype correlation and classification. Hum Genet 114:51-67.
12. Tan-Sindhunata G, Castedo S, Leegte B, Mulder I, vd Veen AY, vd Hout AH, Wiersma TJ, van Essen AJ. 2000. Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype. Am J Med Genet 92:147-152.
13. Velagaleti GVN, Jalal SM, Kukolich MK, Lockhart LH, Tonk VS. 2002. De novo supernumerary ring chromosome 7: First report of a nonmosaic patient and review of the literature. Clin Genet 61:202-206.
14. Von Eggeling F, Langer S, Hoppe C, Liehr T, Weise A, Lederer G, Kotzot D. 2003. Presumed mutation in a microsatellite marker mimicking segmental uniparental disomy in a case of a small supernumerary marker chromosome detected at prenatal diagnosis. Clin Genet 64:168-171.