PMID- 16964622
OWN - NLM
STAT- MEDLINE
DCOM- 20061213
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 140
IP  - 20
DP  - 2006 Oct 15
TI  - 4q35 deletion and 10p15 duplication associated with immunodeficiency.
PG  - 2231-5
AB  - 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].
CI  - (c) 2006 Wiley-Liss, Inc.
FAU - Cingoz, S
AU  - Cingoz S
AD  - Wilhelm Johannsen Centre for Functional Genome Research, IMBG/G, University of 
      Copenhagen, Copenhagen, Denmark.
FAU - Bisgaard, A M
AU  - Bisgaard AM
FAU - Bache, I
AU  - Bache I
FAU - Bryndorf, T
AU  - Bryndorf T
FAU - Kirchoff, M
AU  - Kirchoff M
FAU - Petersen, W
AU  - Petersen W
FAU - Ropers, H-H
AU  - Ropers HH
FAU - Maas, N
AU  - Maas N
FAU - Van Buggenhout, G
AU  - Van Buggenhout G
FAU - Tommerup, N
AU  - Tommerup N
FAU - Tumer, Z
AU  - Tumer Z
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Adolescent
MH  - Adult
MH  - Chromosomes, Human, Pair 10/*genetics
MH  - Chromosomes, Human, Pair 4/*genetics
MH  - Female
MH  - Humans
MH  - Immunologic Deficiency Syndromes/*genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics/pathology
MH  - Pedigree
MH  - *Phenotype
MH  - Translocation, Genetic/*genetics
EDAT- 2006/09/12 09:00
MHDA- 2006/12/14 09:00
CRDT- 2006/09/12 09:00
PHST- 2006/09/12 09:00 [pubmed]
PHST- 2006/12/14 09:00 [medline]
PHST- 2006/09/12 09:00 [entrez]
AID - 10.1002/ajmg.a.31431 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2006 Oct 15;140(20):2231-5. doi: 10.1002/ajmg.a.31431.