The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference60 articles.
1. Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings.
2. How do human isochromosomes arise?
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1. Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency;Molecular Cytogenetics;2023-11-29
2. A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review;International Journal of Pediatric Endocrinology;2020-01-09
3. Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature;Journal of Child Neurology;2018-11-21
4. Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?;Molecular Cytogenetics;2015-07-25
5. Tandem inversion duplication withinF8Intron 1 associated with mild haemophilia A;Haemophilia;2015-05-11
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