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Keywords: Segmental duplications
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Journal Articles

Clinical and Genetic Heterogeneity of the 15q13.3 Microdeletion Syndrome

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Ariane Hassfurther, Eleni Komini, Judith Fischer, Michael Leipoldt
Journal: Molecular Syndromology
Mol Syndromol (2016) 6 (5): 222–228.
https://doi.org/10.1159/000443343
Published Online: 16 January 2016
...Ariane Hassfurther; Eleni Komini; Judith Fischer; Michael Leipoldt The 15q13.3 microdeletion is a recurrent CNV, presumably mediated by NAHR between segmental duplications in chromosome 15. The 15q13.3 deletion and duplication are associated with a wide range of clinical manifestations...
View articletitled, Clinical and Genetic Heterogeneity of the 15q13.3 Microdeletion Syndrome
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Journal Articles

A 1.3-Mb 7q11.23 Atypical Deletion Identified in a Cohort of Patients with Williams-Beuren Syndrome

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
L.M. Delgado, M. Gutierrez, B. Augello, C. Fusco, L. Micale, G. Merla, E.A. Pastene
Journal: Molecular Syndromology
Mol Syndromol (2013) 4 (3): 143–147.
https://doi.org/10.1159/000347167
Published Online: 28 February 2013
... the clinical and molecular characteristics of a patient with an atypical deletion that does not include the GTF2I gene and only partially includes the GTF2IRD1 gene. Deletion 7q11.23 Genomic disorders GTF2I GTF2IRD1 Segmental duplications Williams-Beuren syndrome Williams syndrome 9 01...
View articletitled, A 1.3-Mb 7q11.23 Atypical Deletion Identified in a Cohort of Patients with Williams-Beuren Syndrome
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Journal Articles

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
A. Wischmeijer, P. Magini, R. Giorda, M. Gnoli, R. Ciccone, I. Cecconi, E. Franzoni, L. Mazzanti, G. Romeo, O. Zuffardi, M. Seri
Journal: Molecular Syndromology
Mol Syndromol (2011) 1 (4): 176–184.
https://doi.org/10.1159/000322054
Published Online: 25 November 2010
... homologous segmental duplications related to the well-known olfactory receptor (OR)-containing clusters at 8p and 4p are located at the breakpoints of the imbalance and may be involved in its occurrence. Although these structural features are known to promote recurrent chromosomal rearrangements and previous...
View articletitled, Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype
Open the PDF for Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype in another window