Inherited inverted duplication of X chromosome in a male: Report of a patient and review of the literature
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference19 articles.
1. Dir dup(X) (q13→qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies
2. An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region
3. Familial sex chromosomal mosaicism
4. A duplication within the critical fertility region of X chromosome in a mentally retarded woman with normal menarche
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1. Xq21.1q21.31 Duplication in Two Male Siblings;Molecular Syndromology;2021-11-01
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. Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1;Taiwanese Journal of Obstetrics and Gynecology;2017-06
4. Oculofacial Manifestations of Chromosomal Aberrations;The Eye in Pediatric Systemic Disease;2017
5. Genetic causes of isolated and combined pituitary hormone deficiency;Best Practice & Research Clinical Endocrinology & Metabolism;2016-12
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