Maternal uniparental isodisomy 11q13qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13qter.
Kotzot
D
D
Röthlisberger
B
B
Riegel
M
M
Schinzel
A
A
D000328:Adult; D000483:Alleles; D002478:Cells, Cultured; D002648:Child; D002842:Chromatids / Q000235:genetics; D019457:Chromosome Breakage / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology; D005260:Female; D005347:Fibroblasts; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007621:Karyotyping; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D008540:Meiosis / Q000235:genetics; D018895:Microsatellite Repeats / Q000235:genetics; D008938:Mitosis / Q000235:genetics; D008957:Models, Genetic; D009030:Mosaicism / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*; D024182:Uniparental Disomy / Q000235:genetics*