interstitial deletion

in·ter·sti·tial de·le·tion

deletion that does not involve the terminal parts of a chromosome.
Farlex Partner Medical Dictionary © Farlex 2012
Mentioned in ?
References in periodicals archive ?
There are ~23 patients reported with a DiGeorge-like syndrome and a 10p interstitial deletion including 10p13 and/or 10p14 (2-4).
For example, about 50% of cases show CRLF2 gene rearrangements, usually associated with an interstitial deletion of the PAR1 gene family, which juxtaposes CRLF2 to the promoter of the P2RY8 gene.
Curtis, "Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies," American Journal of Medical Genetics Part A, vol.
Three other LPP-partner genes have been reported in one case of lipoma, HMGA1 (6p21) [32], and in 2 different hematological malignancies: KMT2A(11q23) in a secondary acute leukemia [28] and BCL6(3q27) through a 3q27 interstitial deletion in a primary central nervous system lymphomas [33].
Four were caused by chromosomal translocations that generated more than one fusion transcript [5-8], and another case was due to an interstitial deletion [9].
A classic example is the small 11p interstitial deletion in Wilms tumor and aniridia, which could only be shown via fluorescence in situ hybridization or multiplex ligation-dependent probe amplification.
Several genetic abnormalities are found in the 15q11-q13 region, including: a de novo interstitial deletion of maternal 15q11-q13 in ~75% of cases (4 Mb deletion), paternal uniparental disomy in 2%, an imprinting center mutation in 2%, and a point mutation in E3 ubiquitin protein ligase gene (UBE3A) in 5-10% [11].
Array comparative genomic hybridization revealed a loss of 24 consecutive oligonucleotide probes, thus showing hemizygous interstitial deletion on chromosome Xp21.2.
Cytogenetics revealed a 46XX chromosome complement with an interstitial deletion of the long arm of chromosome 5 [del(5)(q15q33)].
A micro-deletion at chromosome 22q11, the most frequent interstitial deletion found in humans, has been implicated in the onset of schizophrenia.
Ectro-amelia syndrome associated with an interstitial deletion of 7q.

Full browser ?