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Mendeley readers
Attention Score in Context
| Title |
Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3)
|
|---|---|
| Published in |
American Journal of Medical Genetics. Part A, May 2004
|
| DOI | 10.1002/ajmg.a.30115 |
| Pubmed ID | |
| Authors |
Damien Sanlaville, François Vialard, François Thépot, Luce Vue‐Droy, Azarnouche Ardalan, Patrice Nizard, Alain Corré, Bernard Devauchelle, Tanguy Martin‐Denavit, Marc Nouchy, Valérie Malan, Jean‐Louis Taillemite, Marie‐France Portnoï |
| Abstract |
Translocations involving the short arms of the X and Y in human chromosomes are uncommon. One of the best-known consequences of such exchanges is sex reversal in 46,XX males and some 46,XY females, due to exchange in the paternal germline of terminal portions of Xp and Yp, including the SRY gene. Translocations of Xp segments to the Y chromosome result in functional disomy of the X chromosome with an abnormal phenotype and sex reversal if the DSS locus, mapped in Xp21, is present. We describe a 7-month-old girl with severe psychomotor retardation, minor anomalies, malformations, and female external genitalia. Cytogenetic analysis showed a 46,X,mar karyotype. The marker was identified as a der(Y)t(Xp;Yp) by fluorescence in situ hybridisation analysis. Further studies with specific locus probes of X and Y chromosomes made it possible to clarify the break points and demonstrated the presence of two copies of the DAX1 gene, one on the normal X chromosome and one on the der(Y). The karyotype of the child was: 46,X,der(Y)t(X;Y)(p21.2;p11.3). The syndrome resulted from functional disomy Xp21.2-pter, with sex reversal related to the presence of two active copies of the DAX1 gene located in Xp21. Few cases of Xp disomy with sex reversal have been reported, primarily related to Xp duplications with 46,XY karyotype, and less often to Xp;Yq translocations. To our knowledge, our patient with sex reversal and a t(Xp;Yp) is the second reported case. |
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 > Ph. D. Student | 3 | 21% |
| Other | 2 | 14% |
| Student > Master | 2 | 14% |
| Researcher | 2 | 14% |
| Professor | 1 | 7% |
| Other | 3 | 21% |
| Unknown | 1 | 7% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 5 | 36% |
| Medicine and Dentistry | 4 | 29% |
| Biochemistry, Genetics and Molecular Biology | 2 | 14% |
| Social Sciences | 1 | 7% |
| Unspecified | 1 | 7% |
| Other | 0 | 0% |
| Unknown | 1 | 7% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 04 October 2012.
All research outputs
#22,758,309
of 25,373,627 outputs
Outputs from American Journal of Medical Genetics. Part A
#3,684
of 4,208 outputs
Outputs of similar age
#61,395
of 62,958 outputs
Outputs of similar age from American Journal of Medical Genetics. Part A
#14
of 14 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 4,208 research outputs from this source. They receive a mean Attention Score of 4.3. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 14 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.