X long-arm deletions. A review of non-mosaic cases studied with banding techniques

Lillian Skibsted; H. Westh; E. Niebuhr

doi:10.1007/BF00270550

X long-arm deletions. A review of non-mosaic cases studied with banding techniques

Lillian Skibsted^*, H. Westh, E. Niebuhr

^*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskrift › Review › Forskning › peer review

Abstract

A woman with secondary amenorrhoea and an X long-arm deletion (pter→q21:) is described and compared with 30 adult non-mosaic, banded cases. Approximately 50% of the patients had gonadal dysgenesis associated with a higher frequency of short stature and "Turner stigmata" than in women with indication of ovarian activity. It is suggested that preservation of bands Xq26→28 may be decisive for normal ovarian function.

Originalsprog	Engelsk
Sider (fra-til)	1-5
Antal sider	5
Tidsskrift	Human Genetics
Vol/bind	67
Udgave nummer	1
DOI	https://doi.org/10.1007/BF00270550
Status	Udgivet - 1 jun. 1984

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AU - Skibsted, Lillian

AU - Westh, H.

AU - Niebuhr, E.

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Y1 - 1984/6/1

N2 - A woman with secondary amenorrhoea and an X long-arm deletion (pter→q21:) is described and compared with 30 adult non-mosaic, banded cases. Approximately 50% of the patients had gonadal dysgenesis associated with a higher frequency of short stature and "Turner stigmata" than in women with indication of ovarian activity. It is suggested that preservation of bands Xq26→28 may be decisive for normal ovarian function.

AB - A woman with secondary amenorrhoea and an X long-arm deletion (pter→q21:) is described and compared with 30 adult non-mosaic, banded cases. Approximately 50% of the patients had gonadal dysgenesis associated with a higher frequency of short stature and "Turner stigmata" than in women with indication of ovarian activity. It is suggested that preservation of bands Xq26→28 may be decisive for normal ovarian function.

UR - http://www.scopus.com/inward/record.url?scp=0021260126&partnerID=8YFLogxK

U2 - 10.1007/BF00270550

DO - 10.1007/BF00270550

M3 - Review

C2 - 6745919

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JO - Human Genetics

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X long-arm deletions. A review of non-mosaic cases studied with banding techniques

Abstract

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