Maternal uniparental isodisomy 11q13qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13qter

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Bibliographic Details
Published in:Journal of medical genetics 2001-12, Vol.38 (12), p.876
Main Authors: Kotzot, D, Röthlisberger, B, Riegel, M, Schinzel, A
Format: Article
Language:English
Subjects:
Adult
Alleles
Cells, Cultured
Child
Chromatids - genetics
Chromosome Breakage - genetics
Chromosomes, Human, Pair 11 - genetics
Chromosomes, Human, Pair 19 - genetics
Craniofacial Abnormalities - genetics
Craniofacial Abnormalities - pathology
Female
Fibroblasts
Humans
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Intellectual Disability - genetics
Intellectual Disability - pathology
Karyotyping
Lymphocytes - metabolism
Male
Meiosis - genetics
Microsatellite Repeats - genetics
Mitosis - genetics
Models, Genetic
Mosaicism - genetics
Trisomy - genetics
Uniparental Disomy - genetics
Online Access:Get full text
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ISSN:1468-6244