CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy.
نویسندگان
چکیده
The aim of this statement is to provide clinicians, cytogeneticists and molecular geneticists of the Canadian College of Medical Geneticists (CCMG) a comprehensive review of the role of UPD in constitutional genetic diagnosis and to provide a guideline as to when investigation for UPD is recommended. Members of the CCMG Cytogenetics, Molecular Genetics, Clinical Practice, and Prenatal Diagnosis committees reviewed the relevant literature on uniparental disomy (UPD) in constitutional genetic diagnosis (May 2010). Guidelines were developed for UPD testing in Canada. The guidelines were circulated for comment to the CCMG members at large and following appropriate modification, approved by the CCMG Board of Directors (July 2010).
منابع مشابه
Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.
The association of maternal uniparental disomy for chromosome 7 and postnatal growth failure has been reported in four cases and suggests the presence of genomic imprinting of one or more growth related genes on chromosome 7. However, in the reported cases, the possibility of homozygosity for a recessive mutation could not be excluded as the cause of the growth failure as in all cases isodisomy...
متن کاملDiagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations.
Single nucleotide polymorphism–based microarrays used in diagnostic laboratories for the detection of copy number alterations also provide data allowing for surveillance of the genome for regions of homozygosity. The finding of one (or more) long contiguous stretch of homozygosity (LCSH) in a constitutional (nonneoplastic) diagnostic setting can lead to the diagnosis of uniparental disomy invol...
متن کاملCase report: uniparental disomy 16 in association with congenital heart disease.
Uniparental disomy (UPD) is the inheritance of both copies of a given chromosome from the same parent (Warburton, 1988; Anon., 1991). The exact disease associations of UPD of individual chromosomes have yet to be fully elucidated and the question of whether UPD of some chromosomes may be regarded as a benign finding remains unanswered. We report an infant with uniparental maternal disomy 16, th...
متن کاملMyoclonus-dystonia due to maternal uniparental disomy.
BACKGROUND Myoclonus-dystonia is a movement disorder often associated with mutations in the maternally imprinted epsilon-sarcoglycan (SGCE) gene located on chromosome 7q21. Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental disomy of chromosome 7. OBJECTIVES To...
متن کاملAmerican College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy
Uniparental disomy represents a departure from the usual situation in which one member of each pair of chromosomes (called homologous chromosomes) is normally inherited from each parent. Thus, for each of the 23 pairs of human chromosomes, one is normally inherited from the father and the other from the mother. Uniparental disomy (UPD) is the abnormal situation in which both members of a chromo...
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ورودعنوان ژورنال:
- Clinical genetics
دوره 79 2 شماره
صفحات -
تاریخ انتشار 2011