SCOPUS 정보 검색 플랫폼

Volumn 108, Issue 3, 2002, Pages 198-204

Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delay

(9) Levy, Brynn a Jalal, Syed M a Dunn, Teresa M b Warburton, Peter E c Tonk, Vijay S d Hirschhorn, Kurt d Lockhart, Lillian H e Hughes, T f Velagaleti, Gopalrao V N f

a MOUNT SINAI SCHOOL OF MEDICINE (United States)

b MAYO CLINIC (United States)

c TEXAS TECH UNIVERSITY (United States)

d University of Texas Medical Branch School of Medicine (United States)

e A Program of the Seton Brain (United States)

f Dept Pediatrics (United States)

Author keywords

CGH; Developmental delay; FISH; M FISH; Markers; Mosaicism

Indexed keywords

ARTICLE; CASE REPORT; CELL LINE; CENTROMERE; CHROMOSOME 13; CHROMOSOME 3; CHROMOSOME ANALYSIS; CHROMOSOME MARKER; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DNA PROBE; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HYPERACTIVITY; KARYOTYPE; MALE; MARKER CHROMOSOME; METAPHASE; MOSAICISM; PERIPHERAL LYMPHOCYTE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS;

CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME PAINTING; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 3; DEVELOPMENTAL DISABILITIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOSAICISM;

EID: 0037087369 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.10263 Document Type: Article

Times cited : (8)

References (20)

1
- 0004030798
- American College of Medical Genetics. Section E9.6.3
- (1999) Standards and guidelines for clinical genetics laboratories, 2nd ed

2
- 0002660740
- Peripheral blood cytogenetic methods
- Barch MJ, Knutsen T, Spurbeck JL, editors. New York: Lippincott-Raven
- (1997) The AGT cytogenetics laboratory manual , pp. 77-171
- Brown, M.G.¹ Lawce, H.J.²

3
- 0021917574
- Forty-four probands with an additional "marker" chromosome
- (1985) Hum Genet , vol.69 , pp. 353-370
- Buckton, K.E.¹ Spowart, G.² Newton, M.S.³ Evans, H.J.⁴

4
- 0025911027
- Chromosomal origin of small ring marker chromosomes in man: Characterization by molecular genetics
- (1991) Am J Hum Genet , vol.48 , pp. 769-782
- Callen, D.F.¹ Eyre, H.J.² Ringenbergs, M.L.³ Freemantle, C.J.⁴ Woodroffe, P.⁵ Haan, E.A.⁶

5
- 0032477707
- FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature
- (1998) Am J Med Genet , vol.75 , pp. 367-381
- Crolla, J.A.¹

6
- 8544263835
- Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA
- (1997) Hum Mol Genet , vol.6 , pp. 1195-1204
- Depinet, T.W.¹ Zackowski, J.L.² Earnshaw, W.C.³ Kaffe, S.⁴ Sekhon, G.S.⁵ Stallard, R.⁶ Sullivan, B.A.⁷ Vance, G.H.⁸ Van Dyke, D.L.⁹ Willard, H.F.¹⁰ Zinn, A.B.¹¹ Schwartz, S.¹²

7
- 0028899203
- Hardware and software requirements for quantitative analysis of comparative genomic hybridization
- (1995) Cytometry , vol.19 , pp. 4-9
- Du Manoir, S.¹ Kallioniemi, O.P.² Lichter, P.³ Piper, J.⁴ Benedetti, P.A.⁵ Carothers, A.D.⁶ Fantes, J.A.⁷ Garcia-Sagredo, J.M.⁸ Gerdes, T.⁹ Giollant, M.¹⁰

8
- 0345293849
- A functional neocentromere formed through activation of a latent human centromere and consisting of non-alpha satellite DNA
- (1997) Nat Genet , vol.16 , pp. 144-153
- Du Sart, D.¹ Cancilla, M.R.² Earle, E.³ Mao, J.⁴ Saffery, R.⁵ Tainton, K.M.⁶ Kalitsis, P.⁷ Martyn, J.⁸ Barry, A.E.⁹ Choo, K.H.¹⁰

9
- 0003592020
- Basel: S. Karger
- (1995) ISCN (1995): An international system for human cytogenetic nomenclature , pp. 63

10
- 0033157098
- Utility of multicolor fluorescent in situ hybridization in clinical cytogenetics
- (1999) Genet Med , vol.1 , pp. 181-186
- Jalal, S.M.¹ Law, M.E.²

11
- 0027966172
- Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors
- (1994) Genes Chromosomes Cancer , vol.10 , pp. 231-243
- Kallioniemi, O.P.¹ Kallioniemi, A.² Piper, J.³ Isola, J.⁴ Waldman, F.M.⁵ Gray, J.W.⁶ Pinkel, D.⁷

12
- 0032195407
- Clinical applications of comparative genomic hybridization
- (1998) Genet Med , vol.1 , pp. 4-12
- Levy, B.¹ Dunn, T.M.² Kaffe, S.³ Kardon, N.⁴ Hirschhorn, K.⁵

13
- 0034488623
- Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome
- (2000) Cytogenet Cell Genet , vol.91 , pp. 165-170
- Levy, B.¹ Papenhausen, P.R.² Tepperberg, J.H.³ Dunn, T.M.⁴ Fallet, S.⁵ Magid, M.S.⁶ Kardon, N.B.⁷ Hirschhorn, K.⁸ Warburton, P.E.⁹

14
- 0033607642
- Characterization of a small supernumerary ring marker derived from chromosome 2 by forward and reverse chromosome painting
- (1999) Am J Med Genet , vol.87 , pp. 217-220
- Ostroverkhova, N.V.¹ Nazarenko, S.A.² Rubtsov, N.B.³ Nazarenko, L.P.⁴ Bunina, E.N.⁵

15
- 2642683176
- Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities
- (1997) Hum Genet , vol.101 , pp. 255-262
- Schrock, E.¹ Veldman, T.² Padilla-Nash, H.³ Ning, Y.⁴ Spurbeck, J.⁵ Jalal, S.⁶ Shaffer, L.G.⁷ Papenhausen, P.⁸ Kozma, C.⁹ Phelan, M.C.¹⁰ Kjeldsen, E.¹¹ Schonberg, S.A.¹² O'Brien, P.¹³ Biesecker, L.¹⁴ Du Manoir, S.¹⁵ Ried, T.¹⁶

16
- 0028129206
- Characterization of marker chromosomes by microdissection and fluorescence in situ hybridization
- (1994) Prenat Diagn , vol.14 , pp. 583-588
- Thangavelu, M.¹ Pergament, E.² Espinosa III, R.³ Bohlander, S.K.⁴

17
- 0028233254
- Delineation of marker chromosomes by reverse chromosome painting using only a small number of DOP-PCR amplified microdissected chromosomes
- (1994) Hum Genet , vol.93 , pp. 663-667
- Viersbach, R.¹ Schwanitz, G.² Nöthen, M.M.³

18
- 0027377802
- A functional marker centromere with no detectable alpha satellite, satellite III, or CENP-B protein: Activation of a latent centromere?
- (1993) Am J Hum Genet , vol.52 , pp. 1153-1161
- Voullaire, L.E.¹ Slater, H.R.² Petrovic, V.³ Choo, K.H.A.⁴

19
- 0025941775
- De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
- (1991) Am J Hum Genet , vol.49 , pp. 995-1013
- Warburton, D.¹

20
- 0033927331
- Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere
- (2000) Am J Hum Genet , vol.66 , pp. 1794-1806
- Warburton, P.E.¹ Dolled, M.² Mahmood, R.³ Alonso, A.⁴ Li, S.⁵ Naritomi, K.⁶ Tohma, T.⁷ Nagai, T.⁸ Hasegawa, T.⁹ Ohashi, H.¹⁰ Govaerts, L.C.¹¹ Eussen, B.H.¹² Van Hemel, J.O.¹³ Lozzio, C.¹⁴ Schwartz, S.¹⁵ Dowhanick-Morrissette, J.J.¹⁶ Spinner, N.B.¹⁷ Rivera, H.¹⁸ Crolla, J.A.¹⁹ Warburton, D.²⁰ more..

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.