Abstract
True isochromosomes for Xp probably do not exist in a liveborn. We describe a rare case of complete Xp duplication and retention of the inactivation centre at Xql3. Cytogenetieally, it is described as a nonmosaic 46,X,psu idic(X)(ql3). Complete duplication of XpterXql3 was confirmed by banded analysis and FISH probes for X centromere Xp21 XIST locus and whole chromosome paints for X and Y. The abnormal X was always late replicating. Clinically, the patient was short statared had primary amenorrhoea and incomplete development of secondary sexual characteristics but otherwise was phenotypically normal. There are no nonmosaic reported cases with complete lupllcation of i(Xp) confirmed by FISH or molecular techniques. Those cases with partial duplication of Xp and presence of the inactivation centre share the traits of amenorrhoea and poor secondary sexual development. To develop a clinical profile of duplication of Xp (in presence of Xql3) there is a need to study more cases.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 237-239 |
| Number of pages | 3 |
| Journal | Journal of Medical Genetics |
| Volume | 33 |
| Issue number | 3 |
| State | Published - 1996 |
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Keywords
- I(Xp) duplication characteristics
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Cytogenetic and clinical characteristics of a case involving complete duplication of Xpter→Xq13. / Jalal, Syed M.; Dahl, Richard; Erickson, Lisa; Zimmerman, Donald; Lindor, Noralane Morey.
In: Journal of Medical Genetics, Vol. 33, No. 3, 1996, p. 237-239.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Cytogenetic and clinical characteristics of a case involving complete duplication of Xpter→Xq13
AU - Jalal, Syed M.
AU - Dahl, Richard
AU - Erickson, Lisa
AU - Zimmerman, Donald
AU - Lindor, Noralane Morey
PY - 1996
Y1 - 1996
N2 - True isochromosomes for Xp probably do not exist in a liveborn. We describe a rare case of complete Xp duplication and retention of the inactivation centre at Xql3. Cytogenetieally, it is described as a nonmosaic 46,X,psu idic(X)(ql3). Complete duplication of XpterXql3 was confirmed by banded analysis and FISH probes for X centromere Xp21 XIST locus and whole chromosome paints for X and Y. The abnormal X was always late replicating. Clinically, the patient was short statared had primary amenorrhoea and incomplete development of secondary sexual characteristics but otherwise was phenotypically normal. There are no nonmosaic reported cases with complete lupllcation of i(Xp) confirmed by FISH or molecular techniques. Those cases with partial duplication of Xp and presence of the inactivation centre share the traits of amenorrhoea and poor secondary sexual development. To develop a clinical profile of duplication of Xp (in presence of Xql3) there is a need to study more cases.
AB - True isochromosomes for Xp probably do not exist in a liveborn. We describe a rare case of complete Xp duplication and retention of the inactivation centre at Xql3. Cytogenetieally, it is described as a nonmosaic 46,X,psu idic(X)(ql3). Complete duplication of XpterXql3 was confirmed by banded analysis and FISH probes for X centromere Xp21 XIST locus and whole chromosome paints for X and Y. The abnormal X was always late replicating. Clinically, the patient was short statared had primary amenorrhoea and incomplete development of secondary sexual characteristics but otherwise was phenotypically normal. There are no nonmosaic reported cases with complete lupllcation of i(Xp) confirmed by FISH or molecular techniques. Those cases with partial duplication of Xp and presence of the inactivation centre share the traits of amenorrhoea and poor secondary sexual development. To develop a clinical profile of duplication of Xp (in presence of Xql3) there is a need to study more cases.
KW - I(Xp) duplication characteristics
UR - http://www.scopus.com/inward/record.url?scp=0030030185&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030030185&partnerID=8YFLogxK
M3 - Article
C2 - 8728700
AN - SCOPUS:0030030185
VL - 33
SP - 237
EP - 239
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
SN - 0022-2593
IS - 3
ER -