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Rapid determination of trisomy 18 parental origin using fluorescent PCR and small tandem repeat markers: case reports
Author(s) -
Findlay Ian,
Tóth Tamás,
Matthews Paul,
Marton Tamás,
Quirke Philip,
Papp Zoltán
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb02653.x
Subject(s) - trisomy , genetics , biology , microsatellite , chromosomal translocation , polymerase chain reaction , tandem repeat , karyotype , chromosome 21 , aneuploidy , chromosome , gene , allele , genome
Trisomy 18 is the second most common genetic defect after trisomy 21, almost 90% of which are due to additional chromosome from the mother. The parental origin of the additional chromosome can, if required, be determined by two methods: karyotyping, which takes several weeks; or, more recently, by polymerase chain reaction (PCR) which is often problematic. Fluorescent PCR of small tandem repeats (STRs) can determine the parental origin in the majority of cases within 5 h. Although the incidence of paternal origin is known for both trisomy 21 and trisomy 18, this technique can rapidly determine the parental origin in cases where there is insufficient samples to perform conventional tests. Determining parental origin by these methods may also have clinical significance in the diagnosis of chromosomal translocations or in the diagnosis of genetic disease using linkage analysis.