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 Xq13. Cytogenetically, it is described as a nonmosaic 46,X,psu idic(X)(q13). Complete duplication of Xpter-->Xq13 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 statured, had primary amenorrhoea, and incomplete development of secondary sexual characteristics, but otherwise was phenotypically normal. There are no non-mosaic reported cases with complete duplication 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 Xq13) there is a need to study more cases.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Jalal SM,Dahl R,Erickson L,Zimmerman D,Lindor Ndoi
10.1136/jmg.33.3.237subject
Has Abstractpub_date
1996-03-01 00:00:00pages
237-9issue
3eissn
0022-2593issn
1468-6244journal_volume
33pub_type
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journal_title:Journal of medical genetics
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pub_type: 信件
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更新日期:1995-09-01 00:00:00
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