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 ?
The number of patients with the microdeletion syndromes diagnosed at the Clinical Center of the University of Sarajevo using FISH and outside of Bosnia and Herzegovina, included in the statistical analysis Di George PW/Ang Wolf H Williams FISH diagnosis 3 1 1 1 at UKCS Diagnosed by 1 3 3 2 FISH abroad Total 4 4 4 3 PW/Ang--Prader-Willi/Angelman syndrome, Wolf H--Wolf-Hirschhorn syndrome TABLE 3.
He conducted an analysis of one of his own studies, which compared microdeletion detection using both karyotyping and chromosomal microarray.
TAR syndrome is the result of noncoding single nucleotide polymorphisms located in the 5'UTR region or the first intron of the gene RBM8A and also because of microdeletion of chromosome 1q21.
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.
The NR0B1 (DAX1) gene defect coexisted with the deletion of other neighbouring genes (MAGE family genes) and resulted from a submicroscopic microdeletion of the short arm of chromosome X.
Frequency of Y chromosome microdeletion (in AZF regions) in study population Deletion Frequency AZFa 7 (3.
A microdeletion of region has refined the critical interval to 0.
Microdeletion 22q11: apropos of case of schizophrenia in an adolescent.
3 microdeletion syndrome--a rare human genetic disorder--are more likely to develop brain disorders like autism spectrum disorder, epilepsy and schizophrenia (Karun K.
Further refinement of the fetal cell free DNA techniques has indicated that identification of fetal microdeletion syndromes was possible (64).
For example, the most common microdeletion condition, 22q11.
De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy.