microdeletion

microdeletion

Loss of a piece of chromosome too small to be seen by microscopy. Detection of microdeletions requires high-resolution chromosome banding, molecular chromosome analysis with FISH, or DNA analysis.

microdeletion

The loss or removal of a small amount of genetic information (a small number of nucleotides) from a chromosome.
References in periodicals archive ?
Molecular analysis of the Y-chromosome specific STS region by real time PCR and Uniplex PCR amplification of Y chromosome specific six sequence tagged sites (STS) primers were used for identifying AZF gene microdeletion (Table 1).
It may be congenital such as cryptochidism, spermatogenic arrest, Y chromosome microdeletion and sertoli cell only syndrome.
Her son "has the same microdeletion in FAAH-OUT, but does not have the other mutation that confers reduced FAAH function," Cox said.
Ms Sumaya Khan, the plaintiff, contended through a counsel that she developed some post-pregnancy complications and her gynaecologist advised fetal karyotyping and microdeletion examination.
Angelman syndrome is associated with a microdeletion on chromosome 15 encompassing the ubiquitin protein ligase E3a (UBE3A) gene.
His rare 1q44 microdeletion syndrome causes him difficulties to talk and move.
Based on application, the market is segmented into Trisomy, microdeletion syndrome, and other applications.
Clinical findings in 32 patients with 22qll.2 microdeletion attended in the city of Cordoba, Argentina.
Noteworthy, This microdeletion leads to a wide range of peripheral and central symptoms, Including severe deficits in face memory and social cognition, Which remain incurable to date.
In this Chinese newborn baby, we identified a novel microdeletion and a known missense mutation within the INSR gene, which caused a compound heterozygous mutation.
Von-Hippel Lindau syndrome subtypes and genotype-phenotype correlation VHL VHL mutation type Retinal CNS HB RCC PCC type HB 1 Missense, insertion, + + + - splice site, nonsense, microdeletion, wide deletion 2A Missense + + - + 2B Missense + + + + 2C Missense - - - + VHL: Von-Hippel Lindau, HB: Hemangioblastoma, CNS: Central nervous system, RCC: Renal cell carcinoma, PCC: Pheochromocytoma