ArticleCase reports in genetics2015
Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome.
Article in Case reports in genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed, 7 citations in OpenAlex.
- Rare 48, XXYY Syndrome with Primary Infertility and Behavioural Disorder: A Case Report.Journal of human reproductive sciencesArticle
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Klinefelter syndrome is the most common sex chromosome abnormality (SCA) in infertile patients and 47,XXY genomic configuration constitutes most of the cases. However, additional Xs and/or Y such as 48,XXYY, 48,XXXY, and 47,XYY can occur less frequently than 47,XXY. Those configurations were considered as variants of Klinefelter syndrome. In this report, we present an infertile man with tall stature and decreased testicular volume. Semen analysis and hormonal evaluation supported the diagnosis of nonobstructive azoospermia. Genetic investigation demonstrated an abnormal male karyotype with two X chromosomes and two Y chromosomes consistent with 48,XXYY(17)/47,XYY (13). Additionally, the patient expressed cognitive and affective problems which were documented by psychomotor retardation and borderline intelligence measured by an IQ value between 70 and 80. Systemic evaluation also revealed cross ectopy and malrotation of the right kidney in the patient. The couple was referred to microtesticular sperm extraction (micro-TESE)/intracytoplasmic sperm injection (ICSI) cycles and preimplantation genetic diagnosis (PGD). To the best of our knowledge, this is the first report of combination of XYY and XXYY syndromes associated with cognitive, affective dysfunction and renal malrotation.
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Registered trials
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