Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3)
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چکیده
منابع مشابه
Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3).
Submicroscopic duplications in the Miller-Dieker critical region have been recently described as new genomic disorders. To date, only a few cases have been reported with overlapping 17p13.3 duplications in this region. Also, small deletions that affect chromosome region 10p14→pter are rarely described in the literature. In this study, we describe, to our knowledge for the first time, a 5-year-o...
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Subtelomeric rearrangements have recently gained considerable interest through publications indicating that they may be a major cause for unexplained mental retardation and/or multiple congenital anomalies. 2 As the subtelomeric regions have the highest gene density in the genome, subtelomeric aneusomies are in general thought to have a significant effect on the phenotype. Prenatal onset of gro...
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15 صفحه اولA revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
Miller-Dieker syndrome (MDS) is a multiple malformation syndrome characterized by classical lissencephaly and a characteristic facies. It is associated with visible or submicroscopic deletions within chromosome band 17p13.3. Lissencephaly without facial dysmorphism has also been observed and is referred to as isolated lissencephaly sequence (ILS). Apparently partial and non-overlapping deletion...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2012
ISSN: 1661-8769,1661-8777
DOI: 10.1159/000339639