Phenotype in novel Xp duplication

Author:

Salaria Manju,Burgess Trent,Setyapranata Stella,Winship Ingrid

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference10 articles.

1. X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter;Cianchetti;Am J Med Genet,1992

2. Duplication of the STS region in males is a benign copy-number variant;Furrow;Am J Med Genet Part A,2011

3. Interstitial micro duplication of Xp22.31: Causative of intellectual disability or benign copy number variant?;Li;Eur J Med Genet,2010

4. Secondary male hypogonadism and congenital ichthyosis: Association of two rare genetic diseases;Lynch;Am J Med Genet,1960

5. Gene Action in the X-chromosome of the Mouse;Lyon;Nature,1961

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1. Xp22.33p22.13 Duplication in a Male Patient Carrying a Recombinant X Chromosome Derived from an Inherited Intrachromosomal Insertion;Cytogenetic and Genome Research;2023

2. Prenatal Diagnosis of Sex Chromosome Abnormalities;Genetic Disorders and the Fetus;2021-04-20

3. A CNV Catalogue;Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis;2017

4. Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features;Molecular Syndromology;2016-01-12

5. Prenatal Diagnosis of Sex Chromosome Abnormalities;Genetic Disorders and the Fetus;2015-11-23

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