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Journal of Medical Genetics

Volumn 38, Issue 1, 2001, Pages 67-73

Cytogenetic and molecular study of a jumping translocation in a baby with Dandy-Walker malformation [8]

(7) Lefort, G a Blanchet, P a Chaze, A M a Girardet, A a Sarda, P a Demaille, J a Pellestor, F a

a INSTITUTE OF HUMAN GENETICS (France)

Author keywords

[No Author keywords available]

Indexed keywords

REPETITIVE DNA;

CASE REPORT; CHROMOSOME TRANSLOCATION; CYTOGENETICS; DANDY WALKER SYNDROME; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; KARYOTYPE; LETTER; MALE; NUCLEAR MAGNETIC RESONANCE; PRIORITY JOURNAL;

EID: 0035132915 PISSN: 00222593 EISSN: None Source Type: Journal
DOI: 10.1136/jmg.38.1.67 Document Type: Letter

Times cited : (12)

References (22)

1
- 0017191785
- "Jumping" satellites in three generations: A warning for paternity test and prenatal diagnosis
- (1976) Hum Genet , vol.34 , pp. 315-318
- Gimelli, G.¹ Porro, E.² Santi, F.³ Scappaticci, S.⁴ Zuffardi, O.⁵

2
- 0018568073
- Translocation sauteuse (5p;15q), (8q;15q), (12q;15q)
- (1979) Ann Genet , vol.22 , pp. 210-213
- Lejeune, J.¹ Maunoury, C.² Prieur, M.³ Van den Akker, J.⁴

3
- 0026032434
- "Jumping" translocations involving band 3q13.3 in a case of acute monocytic leukemia
- (1991) Cancer Genet Cytogenet , vol.51 , pp. 189-194
- Reis, M.D.¹ Dube, I.D.² Pinkerton, P.H.³ Chen-Lai, J.⁴ Robinson, J.B.⁵ Klock, R.J.⁶ Senn, J.S.⁷

4
- 0026323874
- "Jumping translocation" in a 17-month-old child with mixed-lineage leukemia
- (1991) Cancer Genet Cytogenet , vol.56 , pp. 223-229
- Ben-Neriah, S.¹ Abramov, A.² Lerer, I.³ Polliack, A.⁴ Leizerowitz, R.⁵ Rabinowitz, R.⁶ Abeliovich, D.⁷

5
- 0026771543
- The presence of interstitial telomeric sequences in constitutional chromosome abnormalities
- (1992) Am J Hum Genet , vol.50 , pp. 914-923
- Park, V.M.¹ Gustashaw, K.M.² Wathen, T.M.³

6
- 0031006263
- Interstitial telomeric sequences at the junction site of a jumping translocation
- (1997) Hum Genet , vol.99 , pp. 735-737
- Vermeesch, J.R.¹ Petit, P.² Speleman, F.³ Devriendt, K.⁴ Fryns, J.P.⁵ Marynen, P.⁶

7
- 0030753899
- Familial Dandy-Walker malformation and leukodystrophy
- (1997) Pediatr Neurol , vol.16 , pp. 326-328
- Humbertclaude, V.T.¹ Coubes, P.A.² Leboucq, N.³ Echenne, B.B.⁴

8
- 0030835035
- Dandy-Walker malformation diagnosed before 21 weeks of gestation: Associated malformations and chromosomal abnormalities
- (1997) Ultrasound Obstet Gynecol , vol.10 , pp. 167-170
- Ulm, B.¹ Ulm, M.R.² Deutinger, J.³ Bernaschek, G.⁴

9
- 0015230136
- Sur une nouvelle technique d'analyse du caryotype humain
- (1971) C R Acad Sci (D) (Paris) , vol.272 , pp. 2638-2640
- Dutrillaux, B.¹ Lejeune, J.²

10
- 0028831393
- The use of PRINS technique for a rapid in situ detection of chromosomes 13, 16, 18, 21, X and Y
- (1995) Hum Genet , vol.95 , pp. 12-17
- Pellestor, F.¹ Girardet, A.² Lefort, G.³ Andréo, B.⁴ Charlieu, J.P.⁵

11
- 0030041643
- FISH and PRINS, a strategy for rapid chromosome screening: Application to the assessment of aneuploidy in human sperm
- (1996) Cytogenet Cell Genet , vol.72 , pp. 34-36
- Pellestor, F.¹ Quenesson, I.² Coignet, L.³ Girardet, A.⁴ Andréo, B.⁵ Lefort, G.⁶ Charlieu, J.P.⁷

12
- 0032904148
- Systematic characterisation of disease associated balanced chromsome rearrangements by FISH: Cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes
- (1999) J Med Genet , vol.36 , pp. 271-278
- Wirth, J.¹ Nothwang, H.G.² Van der Maarel, S.³ Menzel, C.⁴ Borck, G.⁵ Lopez-Pajares, I.⁶ Brondum-Nielsen, K.⁷ Tommerup, N.⁸ Bugge, M.⁹ Ropers, H.H.¹⁰ Haaf, T.¹¹

13
- 0027527239
- Types, stability and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences
- (1993) J Med Genet , vol.30 , pp. 926-931
- Rossi, E.¹ Floridia, G.² Casali, M.³ Danesino, C.⁴ Chiumello, G.⁵ Bernardi, F.⁶ Magnani, I.⁷

14
- 16944363754
- Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome
- (1997) J Med Genet , vol.34 , pp. 395-399
- Devriendt, K.¹ Petit, P.² Matthijs, G.³ Vermeesch, J.R.⁴ Holvoet, M.⁵ De Muelenaere, A.⁶ Marynen, P.⁷ Cassiman, J.J.⁸ Fryns, J.P.⁹

15
- 0030752632
- Fluorescence in situ hybridization assessment of the telomeric regions of jumping translocations in a case of aggressive B-cell non-Hodgkin lymphoma
- (1997) Cancer Genet Cytogenet , vol.98 , pp. 20-27
- Gray, B.A.¹ Bent-Williams, A.² Wadsworth, J.³ Maiese, R.L.⁴ Bhatia, A.⁵ Zori, R.T.⁶

16
- 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

17
- 0027325817
- Telomere capture stabilizes chromosome breakage
- (1993) Nat Genet , vol.4 , pp. 252-255
- Meltzer, P.S.¹ Guan, X.Y.² Trent, J.M.³

18
- 0002046327
- Developmentally programmed healing of chromosomes
- Blackburn EH, Greider CW, eds. Telomeres. New York: Cold Spring Harbor Laboratory Press
- (1995) , pp. 203-218
- Blackburn, E.H.¹

19
- 0003151101
- Non-programmed and engineered chromosome breakage
- Blackburn EH, Greider CW, eds. Telomeres. New York: Cold Spring Harbor Laboratory Press
- (1995) , pp. 219-245
- Cooke, H.¹

20
- 0030292885
- The involvement of telomeric sequences in chromosomal aberrations
- (1996) Mutat Res , vol.366 , pp. 129-135
- Bouffler, S.D.¹ Morgan, W.F.² Pandita, T.K.³ Slijepcevic, P.⁴

21
- 0032427522
- Evidence of a differential organization of chromatin containing terminal or interstitial (TTAGGG)n repeats by in situ digestion with nucleases
- (1998) Cytogenet Cell Genet , vol.82 , pp. 195-198
- Fernandez, J.L.¹ Goyanes, V.J.² Ramiro-Diaz, J.³ Gosalvez, J.⁴

22
- 84984775429
- Human telomeres contain two distinct Myb-related proteins, TRF1 and TRF2
- (1997) Nat Genet , vol.17 , pp. 231-235
- Broccoli, D.¹ Smogorzewska, A.² Chong, L.³ De Lange, T.⁴

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