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

We report on a patient with Williams syndrome and a complex de novo chromosome rearrangement, including microdeletions at 7q11.23 and 7q36 and additional chromosomal material at 7q36. The nature of this additional material was elucidated by spectral karyotyping and first assigned to chromosome 22. S...

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Bibliographic Details
Published in:American journal of medical genetics 2001-08, Vol.102 (3), p.261-265
Main Authors: Wouters, Cokkie H., Meijers-Heijboer, Hanne J., Eussen, Bert J.F.M.M., van der Heide, Annette A., van Luijk, Rob B., van Drunen, Ellen, Beverloo, Berna B., Visscher, Frank, Van Hemel, Jan O.
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
chromosome 7q deletions
Chromosome aberrations
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 7 - genetics
Female
FISH
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Medical genetics
Medical sciences
ribosomal material
spectral karyotyping
Williams Syndrome - genetics
Williams Syndrome - pathology
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Summary:We report on a patient with Williams syndrome and a complex de novo chromosome rearrangement, including microdeletions at 7q11.23 and 7q36 and additional chromosomal material at 7q36. The nature of this additional material was elucidated by spectral karyotyping and first assigned to chromosome 22. Subsequent fluorescence in situ hybridization (FISH) experiments showed that it consisted of satellite material only. Refinement of the 7q36 breakpoint was performed with several FISH probes, showing a deletion distal to the triphalangeal thumb (TPT) region. The phenotype of the patient principally results from the microdeletion of the 7q11.23; the small deletion at 7qter and the extra satellite material may not be of clinical significance. © 2001 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1468