Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?
نویسندگان
چکیده
منابع مشابه
LETTER TO JMG Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?
Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent. Mechanisms of formation are trisomy rescue, monosomy rescue, post-fertilisation errors, and gamete complementation. Problems associated with UPD include trisomy mosaicism, genomic imprinting, homozygosity of autosomal recessive mutations, or even a combination of these. Supernumerary marker chromos...
متن کاملSupernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?
Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent. Mechanisms of formation are trisomy rescue, monosomy rescue, post-fertilisation errors, and gamete complementation. Problems associated with UPD include trisomy mosaicism, genomic imprinting, homozygosity of autosomal recessive mutations, or even a combination of these. Supernumerary marker chromos...
متن کاملReview article Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements
Objective—To review all cases with segmental and/or complex uniparental disomy (UPD), to study aetiology and mechanisms of formation, and to draw conclusions. Design—Searching published reports in Medline. Results—The survey found at least nine cases with segmental UPD and a normal karyotype, 22 cases with UPD of a whole chromosome and a simple or a nonhomologous Robertsonian translocation, eig...
متن کاملComplex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.
OBJECTIVE To review all cases with segmental and/or complex uniparental disomy (UPD), to study aetiology and mechanisms of formation, and to draw conclusions. DESIGN Searching published reports in Medline. RESULTS The survey found at least nine cases with segmental UPD and a normal karyotype, 22 cases with UPD of a whole chromosome and a simple or a non-homologous Robertsonian translocation...
متن کاملIdentification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients.
The association of uniparental disomy (UPD) and short stature has been reported for different chromosomes and in several conditions. Therefore, we investigated a cohort of 21 patients referred because of intrauterine and postnatal growth retardation for UPD of chromosomes 2, 7, 9, 14, 16, and 20. Typing of short tandem repeats showed maternal UPD(14) and maternal UPD(20) in two cases. In the fi...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2002
ISSN: 1468-6244
DOI: 10.1136/jmg.39.10.775