Cryptic translocation t(5;18) in familial mental retardation

Annales de Genetique

Volumn 43, Issue 3-4, 2000, Pages 117-123

  Vogels, Annick ^a   Devriendt, Koen ^a   Vermeesch, Joris R ^a   Van Dael, Roeland ^a   Marynen, Peter ^a   Dewaele, Paul ^b   Hageman, Jozef ^c   Holvoet, Maureen ^a   Fryns, Jean Pierre ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b MPI Sint Vincentius ^*

^c MPI Sint Vincentius   (Belgium)

Author keywords

18q deletion; 5q trisomy; Familial mental retardation; Fluorescent in situ hybridization (FISH); Subtelomeric rearrangement

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME 18Q; CHROMOSOME 5Q; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; DISEASE ASSOCIATION; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANT; KARYOTYPE; MALE; MENTAL DEFICIENCY; TELOMERE;

EID: 0034521043     PISSN: 00033995     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0003-3995(00)01024-8     Document Type: Article

References (8)

1. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
2. Excess of mental retardation and/or congenital malformations in reciprocal translocations in man
3. A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation
4. A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration
5. Partial trisomy 5q: Three different phenotypes depending on different duplication segments
6. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres
7. Analysis of clinical variation seen in patients with 18q terminal deletions
8. Assignment of the human glypican gene (GPC1) to 2q35-37 by fluorescence in situ hybridisation