De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference22 articles.
1. Dir dup(X) (q13→qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies
2. Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation
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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. Prenatal Diagnosis of Sex Chromosome Abnormalities;Genetic Disorders and the Fetus;2021-04-20
3. Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage;Proceedings of the National Academy of Sciences;2020-02-18
4. 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
5. 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
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