4q35 deletion and 10p15 duplication associated with immunodeficiency.
We report a familial cryptic reciprocal translocation between 4q35 and 10p15 leading to deletion of the terminal long arm of chromosome 4 and duplication of the terminal short arm of chromosome 10 in two family members who both have immunological disturbances and a similar facial appearance. The precise location and extent of the deletion and duplication was determined by fluorescence in situ hybridization (FISH). Furthermore, we investigated the deletion breakpoint of a previously reported patient with 4q34.3-qter deletion [Van Buggenhout et al. (2004); Am J Med Genet Part A 131A:186-189].
Cingoz
S
S
Wilhelm Johannsen Centre for Functional Genome Research, IMBG/G, University of Copenhagen, Copenhagen, Denmark.
Bisgaard
A M
AM
Bache
I
I
Bryndorf
T
T
Kirchoff
M
M
Petersen
W
W
Ropers
H-H
HH
Maas
N
N
Van Buggenhout
G
G
Tommerup
N
N
Tümer
Z
Z
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics*