title: Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, University Hospital Dijkzigt and Erasmus University, Rotterdam, The Netherlands. wouters@kgen.fgg.eur.nl
authors.forename: C H
authors.initials: CH
authors.lastname: Wouters
authors.forename: H J
authors.initials: HJ
authors.lastname: Meijers-Heijboer
authors.forename: B J
authors.initials: BJ
authors.lastname: Eussen
authors.forename: A A
authors.initials: AA
authors.lastname: van der Heide
authors.forename: R B
authors.initials: RB
authors.lastname: van Luijk
authors.forename: E
authors.initials: E
authors.lastname: van Drunen
authors.forename: B B
authors.initials: BB
authors.lastname: Beverloo
authors.forename: F
authors.initials: F
authors.lastname: Visscher
authors.forename: J O
authors.initials: JO
authors.lastname: Van Hemel
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D018980:Williams Syndrome / Q000235:genetics* / Q000473:pathology