Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference36 articles.
1. Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting
2. Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart
3. Duplication Dup(1)(q32q44) Detected by Comparative Genomic Hybridization (CGH): Further Delineation of Trisomies 1q
4. Insights into lymphocyte development from X-linked immune deficiencies
5. Differential underacetylation of histones H2A, H3 and H4 on the inactive X chromosome in human female cells
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1. Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review;Molecular Cytogenetics;2022-06-27
2. Spread of X‐chromosome inactivation into autosomal regions in patients with unbalanced X‐autosome translocations and its phenotypic effects;American Journal of Medical Genetics Part A;2021-04-29
3. Incorporation of 5-ethynyl-2′-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements;Human Genetics;2015-12-15
4. Characterization of a prenatally diagnosed de novo der(X)t(X;Y)(q27;q11.23) of fetus;Journal of Genetic Medicine;2014-06-30
5. Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region;Human Reproduction;2011-08-22
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