| Title |
Duplication of Yq- and proximal Yp-arms with deletion of almost all PAR1 (including SHOX) in a young man with non-obstructive azoospermia, short stature and skeletal defects
|
|---|---|
| Published in |
Journal of Applied Genetics, October 2017
|
| DOI | 10.1007/s13353-017-0412-7 |
| Pubmed ID | |
| Authors |
Dino Cancemi, Alessandra Iannuzzi, Angela Perucatti, Luigi Montano, Oronzo Capozzi, Carmine Spampanato, Maria Luisa Ventruto, Maria Urciuoli, Leopoldo Iannuzzi, Valerio Ventruto |
| Abstract |
Duplications 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. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 20% |
| Japan | 1 | 20% |
| Unknown | 3 | 60% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 4 | 80% |
| Scientists | 1 | 20% |
Mendeley readers
The data shown below were compiled from readership statistics for 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 14 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 3 | 21% |
| Student > Bachelor | 2 | 14% |
| Researcher | 2 | 14% |
| Professor > Associate Professor | 1 | 7% |
| Other | 1 | 7% |
| Other | 0 | 0% |
| Unknown | 5 | 36% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 36% |
| Agricultural and Biological Sciences | 2 | 14% |
| Biochemistry, Genetics and Molecular Biology | 1 | 7% |
| Unknown | 6 | 43% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 06 February 2018.
All research outputs
#13,056,998
of 23,005,189 outputs
Outputs from Journal of Applied Genetics
#136
of 393 outputs
Outputs of similar age
#152,404
of 323,390 outputs
Outputs of similar age from Journal of Applied Genetics
#3
of 9 outputs
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So far Altmetric has tracked 393 research outputs from this source. They receive a mean Attention Score of 3.0. This one has gotten more attention than average, scoring higher than 64% of its peers.
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