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
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Xp21 contiguous gene deletion is a microdeletion syndrome with intellectual disability,congenital adrenal hypoplasia,glyserol kinase deficiency and dystrophinopathy.
DiGeorge syndrome is the most frequent microdeletion syndrome with an incidence range from 1:4000 to 1:10000, according to the literature [6-10].
This assay was used for the rapid detection of gains and losses of DNA in 75 regions, including aneuploidies of chromosomes 13, 18, 21, X and Y, as well as gains and losses in nine microdeletion syndrome regions that are often associated with genetic disorders.
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.
Fragile X syndrome, sex chromosomal aneuploidy in males and females, microdeletion syndrome, Down syndrome, and neurofibromatosis type 1 are the most common known and diagnosable genetic causes of the disorder, said Dr.
The assay detects aneuploidies of chromosomes 13, 18, 21, X and Y, as well as DNA copy number changes in 9 microdeletion syndrome regions.
3 microdeletion syndrome indicated a frequency of occurrence among mentally retarded individuals similar to Prader Willi syndrome, Angelman syndrome, and Williams-Beuren syndrome (3).
In this group, 2 of the samples revealed a complex pattern involving both gain and loss on 2 different chromosomes (case 1) or on the same chromosome (case 2), 2 samples had a well-defined microdeletion syndrome (cases 3 and 4), 1 sample had a subtelomeric deletion (case 5), and 2 samples had whole-chromosome aneuploidy (cases 6 and 7).
Further refinement of the fetal cell free DNA techniques has indicated that identification of fetal microdeletion syndromes was possible (64).