Ontology type: schema:ScholarlyArticle
2017-10-06
AUTHORSDino Cancemi, Alessandra Iannuzzi, Angela Perucatti, Luigi Montano, Oronzo Capozzi, Carmine Spampanato, Maria Luisa Ventruto, Maria Urciuoli, Leopoldo Iannuzzi, Valerio Ventruto
ABSTRACTDuplications of Yq arm (and AZF) seems to be tolerated by fertile males, while mutations, deletions, duplications or haploinsufficiency of SHOX can originate a wide range of phenotypes, including short stature and skeletal abnormalities. We report a case of non-obstructive azoospermia in a young man with short stature, skeletal anomalies, normal intelligence and hormonal parameters. This male showed a very singular Y-chromosome aberration, consisting of a duplication of Yq and proximal regions of Yp, with a deletion of almost all PAR1 in Yptel, including SHOX. CBA- and RBA-banding and FISH-mapping with telomeric, centromeric, AZF and SHOX probes were used. These results were confirmed by array CGH, which revealed the following karyotype constitution: arr [hg19] Xp22.33 or Yp11.32p11.31 (310,932–2,646,815 or 260,932–2,596,815) ×1, Yp11.2q12 (8,641,183–59,335,913) ×2. We conclude that the haploinsufficience of SHOX may be the cause of short stature and skeletal defects in the patient, while the non-obstructive azoospermia could be related to the lack of X–Y pairing during meiosis originated by the anomalous configuration of this chromosome abnormality and large deletion which occurred in Yp-PAR1. More... »
PAGES481-486
http://scigraph.springernature.com/pub.10.1007/s13353-017-0412-7
DOIhttp://dx.doi.org/10.1007/s13353-017-0412-7
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/29019057
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