A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.
AUTOR(ES)
Tupler, R
RESUMO
An unbalanced complex chromosome rearrangement with 10 breakpoints resulting in four derivative chromosomes (1, 2, 4, and 11) was found in a girl with severe phenotypic abnormalities, many of which are characteristic of Williams syndrome. The patient was monosomic for the region 4q33----q35.1 and thus the mapping of the syndrome could tentatively be restricted to this region.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1015926Documentos Relacionados
- Interstitial deletion, del(4)(q33q35.1), in a mother and two children.
- A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.
- Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35).
- Disclosure of five breakpoints in a complex chromosome rearrangement by microdissection and FISH.
- High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus