4q35 deletion and 10p15 duplication associated with immunodeficiency

S Cingoz; A M Bisgaard; I Bache; T Bryndorf; M Kirchoff; W Petersen; H-H Ropers; N Maas; G Van Buggenhout; N Tommerup; Z Tümer

doi:10.1002/ajmg.a.31431

4q35 deletion and 10p15 duplication associated with immunodeficiency

S Cingoz, A M Bisgaard, I Bache, T Bryndorf, M Kirchoff, W Petersen, H-H Ropers, N Maas, G Van Buggenhout, N Tommerup, Z Tümer^*

^*Corresponding author for this work

9 Citations (Scopus)

Abstract

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].

Original language	English
Journal	American Journal of Medical Genetics. Part A
Volume	140
Issue number	20
Pages (from-to)	2231-5
Number of pages	5
ISSN	1552-4825
DOIs	https://doi.org/10.1002/ajmg.a.31431
Publication status	Published - 15 Oct 2006

Keywords

Abnormalities, Multiple/genetics
Adolescent
Adult
Chromosomes, Human, Pair 10/genetics
Chromosomes, Human, Pair 4/genetics
Female
Humans
Immunologic Deficiency Syndromes/genetics
In Situ Hybridization, Fluorescence
Intellectual Disability/genetics
Pedigree
Phenotype
Translocation, Genetic/genetics

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10.1002/ajmg.a.31431

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title = "4q35 deletion and 10p15 duplication associated with immunodeficiency",

abstract = "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].",

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author = "S Cingoz and Bisgaard, \{A M\} and I Bache and T Bryndorf and M Kirchoff and W Petersen and H-H Ropers and N Maas and \{Van Buggenhout\}, G and N Tommerup and Z T{\"u}mer",

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doi = "10.1002/ajmg.a.31431",

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T1 - 4q35 deletion and 10p15 duplication associated with immunodeficiency

AU - Cingoz, S

AU - Bisgaard, A M

AU - Bache, I

AU - Bryndorf, T

AU - Kirchoff, M

AU - Petersen, W

AU - Ropers, H-H

AU - Maas, N

AU - Van Buggenhout, G

AU - Tommerup, N

AU - Tümer, Z

PY - 2006/10/15

Y1 - 2006/10/15

N2 - 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].

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].

KW - Abnormalities, Multiple/genetics

KW - Adolescent

KW - Adult

KW - Chromosomes, Human, Pair 10/genetics

KW - Chromosomes, Human, Pair 4/genetics

KW - Female

KW - Humans

KW - Immunologic Deficiency Syndromes/genetics

KW - In Situ Hybridization, Fluorescence

KW - Intellectual Disability/genetics

KW - Pedigree

KW - Phenotype

KW - Translocation, Genetic/genetics

UR - https://www.scopus.com/pages/publications/33749495749

U2 - 10.1002/ajmg.a.31431

DO - 10.1002/ajmg.a.31431

M3 - Journal article

C2 - 16964622

SN - 1552-4825

VL - 140

SP - 2231

EP - 2235

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 20

ER -

4q35 deletion and 10p15 duplication associated with immunodeficiency

Abstract

Keywords

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