microdeletion syndrome

microdeletion syndrome

A condition caused by a loss of a fragment of chromosome, such as Angelman syndrome, DiGeorge syndrome, Prader-Willi syndrome and Williams syndrome.

microdeletion syndrome

Molecular medicine A clinical condition caused by a loss of a teensy-weensy part of a chromosome–eg, Angelman syndrome, DiGeorge syndrome, Prader-Willi syndrome, Williams syndrome
Mentioned in ?
References in periodicals archive ?
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.
Moreover, it seems difficult to diagnose the 3q26.33q27.3 microdeletion syndrome in uterus in the absence of morphological abnormalities detectable by echography.
Kirchhoff, "A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients," European Journal of Medical Genetics, vol.
Detecting the microdeletion syndrome by using FISH technique and detecting some single gene disorders are additional outputs of these prenatal genetic investigations.
During the seven-year period from June 01, 2008 to June 01 2015, 24 pediatric patient samples were received by the Laboratory of human genetics, Department of Clinical Pathology and Cytology, at the Clinical Center of the University of Sarajevo, referred for FISH testing in order to confirm a suspected microdeletion syndrome. All peripheral blood samples were received in heparin tubes and sample volume was 1-3 ml.
Selection of the nine microdeletion syndrome regions was based on their association with chromosomal disorders with a relatively high prevalence, and syndromes in which the deletion was the major mechanism underlying the pathology.
Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res.
22q11.2 microdeletion syndrome is the most common genetic syndrome in the population and it is observed in one of 4 000 live births (1, 2).
In the years following this pivotal study, several authors described cases of a haploinsufficiency of the gene encoding for elastin within a microdeletion syndrome [Lowery et al., 1995; Hirota et al., 1996; Brondum-Nielsen, 1997].