Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype

American Journal of Medical Genetics

Volumn 92, Issue 2, 2000, Pages 147-152

  Tan Sindhunata, Gita ^a,d   Castedo, Sérgio ^b   Leegte, Beike ^b   Mulder, Irma ^b   Vd Veen, Anneke Y ^b   Vd Hout, Annemieke H ^b   Wiersma, Titte J ^c   Van Essen, Anthonie J ^b  

^a VU UNIVERSITY AMSTERDAM   (Netherlands)

^b UNIVERSITY OF GRONINGEN   (Netherlands)

^c Tjongerschans Hospital   (Netherlands)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Familial; Fluorescence in situ hybridization; Small supernumerary ring chromosome 7

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 7; CYTOGENETICS; FAMILY STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HETEROCHROMATIN; HUMAN; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; METAPHASE CHROMOSOME; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PRIORITY JOURNAL;

ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 7; CYTOGENETIC ANALYSIS; FACE; FAMILY HEALTH; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MENTAL RETARDATION; PHENOTYPE; RING CHROMOSOMES;

EID: 0034657753     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000515)92:2<147::AID-AJMG13>3.0.CO;2-I     Document Type: Article

References (22)

1. Blennow E, Annerén G, Bui T-H, Berggren E, Asadi E, Nordenskjöld M. 1993. Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH). Am J Hum Genet 53:433-442.
2. Blennow E, Brondum Nielsen K, Telenius H, Carter NP, Kristofferson U, Holmberg E, Gillberg C, Nordenskjöld M. 1995. Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization. Am J Med Genet 55:85-94.
3. Blennow E, Bui T-H, Kristofferson U, Vujic M, Anneréns G, Holmberg E, Nordenskjöld M. 1994. Swedish survey on extra structurally abnormal chromosomes in 39,105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization. Pren Diag 14: 1019-1028.
4. Callen DF, Eyre H, Ringenbergs ML, Freemantle CJ, Woodroffe P, Haan EA. 1991. Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics. Am J Med Genet 48:769-782.
5. Callen DF, Eyre H, Yip M-Y, Freemantle J, Haan EA. 1992. Molecular cytogenetic and clinical studies of 42 patients with marker chromsomes. Am J Med Genet 43:709-715.
6. Callen DF, Ringenbergs ML, Fowler JCS, Freemantle CJ, Haan EA. 1990. Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16. J Med Genet 27:155-159.
7. Chen H, Tuck-Muller CM, Batista DAS, Wertelecki W. 1995. Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization. Am J Med Genet 56:219-223.
8. Daniel A, Malafiej P, Preece K, Chia N, Nelson J, Smith M. 1994. Identification of marker chromosomes in 13 patients using FISH probing. Am J Med Genet 53:8-18.
9. Devilee P, Cremer T, Slagboom P, Bakker E, Scholl HP, Hager HD, Stevenson AF, Cornelisse CJ, Pearson PL. 1986. Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18, and 21. Cytogenet Cell Genet 41:193-201.
10. Devilee P, Thierry RF, Kievits T, Kolluri R, Hopman, AH, Willard HF, Pearson, PL, Cornelisse CJ. 1988. Detection of chromosome aneuploidy in interphase nuclei from human primary breast tumors using chromosome specific repetitive DNA probes. Cancer Res 48(20):5825-5830.
11. Gravholt CH, Friedrich U. 1995. Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children. Am J Med Genet 56:106-111.
12. Green ED, Idol JR, Mohr-Tidwell RM, Braden VV, Peluso DC, Fulton RS, Massa HF, Magness CL, Wilson AN, Kimura J, Weissenbach J, Trask BJ. 1994. Integration of physical, genetic, and cytogenetic maps of human chromosome 7: isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers. Hum Mol Genet 3(3): 489-501.
13. Higgins MJ, Wang HS, Shtromas I, Haliotis T, Roder JC, Holden JJ, White BN. 1985. Organization of a repetitive human 1.8 kb KpnI sequence localized in the heterochromatin of chromosome 15. Chromosoma 93: 77-86.
14. Human Cytogenetics Database. 1994. Oxford University Press.
15. James RS, Temple IK, Dennis NR, Crolla JA. 1995. A search for uniparental disomy in carriers of supernumerary marker chromosomes. Eur J Hum Genet 3:21-26.
16. McDermid HE, Duncan AM, Higgins MJ, Hamerton JL, Rector E, Brasch KR, White BN. 1986. Isolation and characterization of an alpha-satellite repeated sequence from human chromosome 22. Chromosoma 94:228-234.
17. Melnyk AR, Dewald G. 1994. Identification of a small supernumerary ring chromsome 8 by fluorescent in situ hybridization in a child with developmental delay and minor anomalies. Am J Med Genet 50:12-14.
18. Michalski K, Rauer M, Williamson N, Perszyk A, Hoo JJ. 1993. Identification, counseling, and outcome of two cases of prenatally diagnosed supernumerary small ring chromosomes. Am J Med Genet 46:88-94.
19. Plattner R, Heerema NA, Howard-Peebles PN, Miles JH, Soukup S, Palmer CG. 1993. Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization. Hum Genet 91: 589-598.
20. Rauch A, Pfeiffer RA, Trautmann U, Liehr T, Rott HD, Ulmer RA. 1992. A study of 10 small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH). Clin Genet 42:84-90.
21. Spinner NB, Rehberg Grace K, Owens NL, Sovinsky L, Pellegrino JE, McDonald-McGinn D, Zackai E. 1995. Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism. Am J Med Genet 56:22-24.
22. Weissenbach J, Gyapay G, Dib C, Vignal A, Morisette J, Millasseau P, Vaysseix G, Lathrop M. 1992. A second-generation linkage map of the human genome. Nature 359:794-801.