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Volumn 107, Issue 4, 2002, Pages 275-284

Subtelomeric rearrangements detected in patients with idiopathic mental retardation

(9) Anderlid, Britt Marie a Schoumans, Jacqueline a Annerén, Göran b Sahlén, Sigrid a Kyllerman, Mårten c Vujic, Mihailo d Hagberg, Bengt c Blennow, Elisabeth a Nordenskjöld, Magnus a

a KAROLINSKA UNIVERSITY HOSPITAL (Sweden)

b UNIVERSITY CHILDREN S HOSPITAL (Sweden)

c QUEEN SILVIA CHILDREN'S HOSPITAL (Sweden)

d SAHLGRENSKA UNIVERSITY HOSPITAL (Sweden)

Author keywords

Chromosome deletion; Chromosome translocation; Cryptic chromosomal aberration; FISH; Mental retardation; SKY; Subtelomeric

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME ARM; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; CORRELATION ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANT; INHERITANCE; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PATHOGENESIS; PRIORITY JOURNAL; SCREENING TEST; SPECTROSCOPY; TELOMERE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME PAINTING; DNA PROBES; FEMALE; GENE REARRANGEMENT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; MENTAL RETARDATION; MIDDLE AGED; TELOMERE;

EID: 0036467232 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.10029 Document Type: Article

Times cited : (141)

References (28)

1
- 0033764929
- The promise and pitfalls of telomere region-specific probes
- (2000) Am J Hum Genet , vol.67 , pp. 1356-1359
- Batlif, B.C.¹ Kashork, C.D.² Shaffer, L.G.³

2
- 0034015899
- Individuals with abnormal phenotype and normal G-banding karyotype: Improvement and limitations in the diagnosis by the use of 24-colour FISH
- (2000) Hum Genet , vol.106 , pp. 392-398
- Bezrookove, V.¹ Hansson, K.² Van der Burg, M.³ Van der Smagt, J.J.⁴ Hilhorst-Hofstee, Y.⁵ Wiegant, J.⁶ Beverstock, G.C.⁷ Raap, A.K.⁸ Tanke, H.⁹ Breuning, M.H.¹⁰ Rosenberg, C.¹¹

3
- 0025086570
- Structure and polymorphism of human telomere-associated DNA
- (1990) Cell , vol.63 , pp. 119-132
- Brown, W.R.¹ MacKinnon, P.J.² Villasante, A.³ Spurr, N.⁴ Buckle, V.J.⁵ Dobson, M.J.⁶

4
- 0035083998
- Clinical studies on submicroscopic subtelomeric rearrangements: A checklist
- (2001) J Med Genet , vol.38 , pp. 145-150
- De Vries, B.B.¹ White, S.M.² Knight, S.J.³ Regan, R.⁴ Homfray, T.⁵ Young, I.D.⁶ Super, M.⁷ McKeown, C.⁸ Splitt, M.⁹ Quarrell, O.W.¹⁰ Trainer, A.H.¹¹ Niermeijer, M.F.¹² Malcolm, S.¹³ Flint, J.¹⁴ Hurst, J.A.¹⁵ Winter, R.M.¹⁶

5
- 0029736830
- The genetics of mental retardation
- (1996) Br Med Bull , vol.52 , pp. 453-464
- Flint, J.¹ Wilkie, A.O.²

6
- 0028798545
- The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
- (1995) Nat Genet , vol.9 , pp. 132-140
- Flint, J.¹ Wilkie, A.O.² Buckle, V.J.³ Winter, R.M.⁴ Holland, A.J.⁵ McDermid, H.E.⁶

7
- 0034606202
- Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH
- (2000) Am J Med Genet , vol.96 , pp. 839-844
- Goizet, C.¹ Excoffier, E.² Taine, L.³ Taupiac, E.⁴ El Moneim, A.A.⁵ Arveiler, B.⁶ Bouvard, M.⁷ Lacombe, D.⁸

8
- 0034046292
- Perfect endings: A review of subtelomeric probes and their use in clinical diagnosis
- (2000) J Med Genet , vol.37 , pp. 401-409
- Knight, S.J.¹ Flint, J.²

9
- 0030960829
- Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres
- (1997) Eur J Hum Genet , vol.5 , pp. 1-8
- Knight, S.J.¹ Horsley, S.W.² Regan, R.³ Lawrie, N.M.⁴ Maher, E.J.⁵ Cardy, D.L.⁶ Flint, J.⁷ Kearney, L.⁸

10
- 0033552424
- Subtle chromosomal rearrangements in children with unexplained mental retardation
- (1999) Lancet , vol.354 , pp. 1676-1681
- Knight, S.J.¹ Regan, R.² Nicod, A.³ Horsley, S.W.⁴ Kearney, L.⁵ Homfray, T.⁶ Winter, R.M.⁷ Bolton, P.⁸ Flint, J.⁹

11
- 0033851883
- An optimized set of human telomere clones for studying telomere integrity and architecture
- (2000) Am J Hum Genet , vol.67 , pp. 320-332
- Knight, S.J.¹ Lese, C.M.² Precht, K.S.³ Kuc, J.⁴ Ning, Y.⁵ Lucas, S.⁶ Regan, R.⁷ Brenan, M.⁸ Nicod, A.⁹ Lawrie, N.M.¹⁰ Cardy, D.L.¹¹ Nguyen, H.¹² Hudson, T.J.¹³ Riethman, H.C.¹⁴ Ledbetter, D.H.¹⁵ Flint, J.¹⁶

12
- 0026746602
- Minireview: Cryptic translocations and telomere integrity
- (1992) Am J Hum Genet , vol.51 , pp. 451-456
- Ledbetter, D.H.¹

13
- 0027959201
- Sequence organization of the human chromosome 2q telomere
- (1994) Hum Mol Genet , vol.3 , pp. 1847-1853
- Macina, R.A.¹ Negorev, D.G.² Spais, C.³ Ruthig, L.A.⁴ Hu, X.L.⁵ Riethman, H.C.⁶

14
- 16044371402
- A complete set of telomeric probes and their clinical application
- (1996) Nat Genet , vol.14 , pp. 86-89

15
- 0028053136
- Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3
- (1994) Am J Hum Genet , vol.54 , pp. 464-472
- Nesslinger, N.J.¹ Gorski, J.L.² Kurczynski, T.W.³ Shapira, S.K.⁴ Siegel-Bartelt, J.⁵ Dumanski, J.P.⁶ Cullen, R.F.⁷ French, B.N.⁸ McDermid, H.E.⁹

16
- 0032823523
- Genome-wide analysis of DNA copy-number changes using cDNA microarrays
- (1999) Nat Genet , vol.23 , pp. 41-46
- Pollack, J.R.¹ Perou, C.M.² Alizadeh, A.A.³ Eisen, M.B.⁴ Pergamenschikov, A.⁵ Williams, C.F.⁶ Jeffrey, S.S.⁷ Botstein, D.⁸ Brown, P.O.⁹

17
- 8044233695
- The prevalence of mental retardation: A critical review of recent literature
- (1997) Dev Med Child Neurol , vol.39 , pp. 125-132
- Roeleveld, N.¹ Zielhuis, G.A.² Gabreels, F.³

18
- 0033912695
- Detection of chromosomal aberrations by a wholegenome microsatellite screen
- (2000) Am J Hum Genet , vol.66 , pp. 419-427
- Rosenberg, M.J.¹ Vaske, D.² Killoran, C.E.³ Ning, Y.⁴ Wargowski, D.⁵ Hudgins, L.⁶ Tifft, C.J.⁷ Meck, J.⁸ Blancato, J.K.⁹ Rosenbaum, K.¹⁰ Pauli, R.M.¹¹ Weber, J.¹² Biesecker, L.G.¹³

19
- 0034979654
- Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congential malformations
- (2001) J Med Genet , vol.38 , pp. 417-420
- Rossi, E.¹ Piccini, F.² Zollino, M.³ Neri, G.⁴ Caselli, D.⁵ Tenconi, R.⁶ Castellan, C.⁷ Carrozzo, R.⁸ Danesino, C.⁹ Zuffardi, O.¹⁰ Ragusa, A.¹¹ Castiglia, L.¹² Galesi, O.¹³ Greco, D.¹⁴ Romano, C.¹⁵ Pierluigi, M.¹⁶ Perfumo, C.¹⁷ Di Rocco, M.¹⁸ Faravelli, F.¹⁹ Dagna Bricarelli, F.²⁰ more..

20
- 0344654747
- "Essentially pure" partial trisomy (6)(p23->pter) in two brothers due to maternal t(6;17)(p23; p13.3)
- (1999) Am J Med Genet , vol.85 , pp. 389-394
- Röthlisberger, B.¹ Kotzot, D.² Gnehm, H.E.³ Schinzel, A.⁴

21
- 0026771276
- The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes
- (1992) Proc Natl Acad Sci USA , vol.89 , pp. 4913-4917
- Saccone, S.¹ De Sario, A.² Della Valle, G.³ Bernardi, G.⁴

22
- 0038214755
- Multicolor spectral karyotyping of human chromosomes
- (1996) Science , vol.273 , pp. 494-497
- Schröck, E.¹ Du Manoir, S.² Veldman, T.³ Schoell, B.⁴ Wienberg, J.⁵ Ferguson-Smith, M.A.⁶ Ning, Y.⁷ Ledbetter, D.H.⁸ Bar-Am, I.⁹ Soenksen, D.¹⁰ Garini, Y.¹¹ Ried, T.¹²

23
- 0032901062
- Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres
- (1999) J Med Genet , vol.36 , pp. 405-411
- Slavotinek, A.¹ Rosenberg, M.² Knight, S.³ Gaunt, L.⁴ Fergusson, W.⁵ Killoran, C.⁶ Clayton-Smith, J.⁷ Kingston, H.⁸ Campbell, R.H.⁹ Flint, J.¹⁰ Donnai, D.¹¹ Biesecker, L.¹²

24
- 0027339968
- Duplication 9q34-> qter identified by chromosome painting
- (1993) Am J Med Genet , vol.45 , pp. 609-613
- Spinner, N.B.¹ Lucas, J.N.² Poggensee, M.³ Jacquette, M.⁴ Schneider, A.⁵

25
- 0016765859
- Partial trisomy 9q: A new syndrome
- (1975) Humangenetik , vol.29 , pp. 233-241
- Turleau, C.¹ De Grouchy, J.² Chavin-Colin, F.³ Roubin, M.⁴ Brissaud, P.E.⁵ Repesse, G.⁶ Safar, A.⁷ Borniche, P.⁸

26
- 0033362090
- Multiplex-FISH for pre- and postnatal diagnostic applications
- (1999) Am J Hum Genet , vol.65 , pp. 448-462
- Uhrig, S.¹ Schuffenhauer, S.² Fauth, C.³ Wirtz, A.⁴ Daumer-Haas, C.⁵ Apacik, C.⁶ Cohen, M.⁷ Muller-Navia, J.⁸ Cremer, T.⁹ Murken, J.¹⁰ Speicher, M.R.¹¹

27
- 0027428757
- Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion
- (1993) Clin Genet , vol.44 , pp. 262-269
- Wauters, J.G.¹ Bossuyt, P.J.² Roelen, L.³ Van Roy, B.⁴ Dumon, J.⁵

28
- 0034684044
- Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome
- (2000) Am J Med Genet , vol.94 , pp. 254-261
- Zollino, M.¹ Di Stefano, C.² Zampino, G.³ Mastroiacovo, P.⁴ Wright, T.J.⁵ Sorge, G.⁶ Selicorni, A.⁷ Tenconi, R.⁸ Zappala, A.⁹ Battaglia, A.¹⁰ Di Rocco, M.¹¹ Palka, G.¹² Pallotta, R.¹³ Altherr, M.R.¹⁴ Neri, G.¹⁵

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