Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome

American Journal of Medical Genetics

Volumn 102, Issue 3, 2001, Pages 261-265

  Wouters, Cokkie H ^a,c   Meijers Heijboer, Hanne J ^a   Eussen, Bert J F M M ^b   Van Der Heide, Annette A ^a   Van Luijk, Rob B ^a   Van Drunen, Ellen ^b   Beverloo, Berna B ^a   Visscher, Frank ^a   Van Hemel, Jan O ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b Oosterschelde Hospital   (Netherlands)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

Chromosome 7q deletions; FISH; Ribosomal material; Spectral karyotyping

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 7Q; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CHROMOSOME SATELLITE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; KARYOTYPING; PHENOTYPE; PRIORITY JOURNAL; RIBOSOME; WILLIAMS BEUREN SYNDROME;

ADULT; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; WILLIAMS SYNDROME;

EID: 0035882367     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1468     Document Type: Article

References (22)

1. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance
2. Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region
3. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
4. Strong variable clinical presentation in 3 patients with 7q terminal deletion
5. Williams syndrome professional symposium
6. The gene for triphalangeal thumb maps to the subtomeric region of chromosome 7q
7. Complex FISH probes for the subtelomeric regions of all human chromosomes: Comparative hybridization of CEPH YACs to chromosomes of the old world monkey Presbytis cristata and great apes
8. Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization
9. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients
10. Fourier transform multipixel spectroscopy for quantitative cytology
11. The natural history of Williams syndrome: Physical characteristics
12. Positional mapping of loci in the DiGeorge critical region of chromosome 22q11 using a new marker (D22S183)
13. A complete set of human telomeric probes and their clinical application
14. Deletions of the elastin gene at 7q11.23 occur in 90% of patients with Williams syndrome
15. Familial Williams-Beuren syndrome
16. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization
17. Cloning and comparative mapping of recently evolved human chromosome 22-specific alpha satellite DNA
18. The Williams syndrome: Evidence for possible autosomal dominant inheritance
19. Multicolor spectral karyotyping of human chromosomes
20. Genomic organization of alpha satellite DNA on human chromosome 7: Evidence for two distinct alphoid domains on a single chromosome
21. Supravavular aortic stenosis
22. Metacarpophalangeal pattern (MCPP) profile analysis in a family with triphalangeal thumb