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 ?
2 microdeletion in Ultrasound in Obstetrics and Gynecology.
Prenatal BoBs[TM] is a multiplex bead-based suspension array technology designed for gain-and-loss screening of chromosomes 13, 18, 21, X and Y and nine targeted microdeletion regions.
The joint opinion now includes a recommendation against routinely using cell-free DNA screening for microdeletion syndromes.
Tender by open procedure for the provision of an ~analytical system for detecting dianomalie chromosomal microdeletion syndromes and microduplications applicants~ needed to dicitogenetica laboratory and molecular genetics of the Hospital of Matera.
Noninvasive prenatal diagnosis of a fetal microdeletion syndrome.
This edition includes about 20 new conditions and a new chapter on microdeletion and microduplication syndromes.
Chromosomal aberrations, Yq microdeletion, and sperm DNA fragmentation in infertile men opting for assisted reproduction.
Separately, the CytoOneArray[R] lab provides clinical researchers with detection analyses of microdeletion and microduplications for 264 clinically confirmed disease regions and 41 subtelomere regions related to congenital disorders.
Phenotype of five patients with Greig syndrome and microdeletion of 7p13.