X chromosomal abnormalities in Indian adolescent girls
Identifieur interne : 008F64 ( Main/Exploration ); précédent : 008F63; suivant : 008F65X chromosomal abnormalities in Indian adolescent girls
Auteurs : Bani Bandana Ganguly [Inde] ; Sumedha Sahni [Inde]Source :
- Teratogenesis, Carcinogenesis, and Mutagenesis [ 0270-3211 ] ; 2003.
Abstract
In girls of adolescent age, primary amenorrhea is a major problem and it is often suspected as Turner syndrome (TS), with complete or partial absence of one of the two X chromosomes. The girls who are unable to menstruate are primarily investigated by the gynecologists with the help of a physical examination, sonogram of the pelvis, endocrinologic tests, and ultimately cytogenetic analysis. Chromosomal analyses have been carried out in 280 such cases that were referred from different parts of the country. The standard protocol for peripheral blood lymphocyte culture was followed for metaphase chromosome preparation and conventional analysis of G‐banded chromosomes. A total of 29% cases were found to have some chromosomal abnormality, including TS and testicular feminization syndrome involving sex chromosomes. Amongst those with sex chromosomal anomaly, 34% had evidence of a 46,XY karyotype in phenotypic females and 51% had pure line 45,X or mosaic with normal XX or other aberrations in X. The classification of the TS group further showed the spectrum of variant TS in Indian adolescent girls who suffered from absence or delayed menarche to correspond well with the Belgian, Danish, or Russian population. However, it has been reported that only 1% of the pure line 45,X conception is viable, indicating the necessity of mosaicism with X or Y chromosome. It has been understood that conventional banding analysis is absolutely necessary for segregating the variant nature of TS. In addition, molecular genetic or molecular cytogenetic investigations can determine the nature of mosaicism. The present study further indicated the involvement of autosomes in causing improper sexual development in girls of adolescent age. Teratogenesis Carcinog. Mutagen. Suppl. 1:245–253, 2003. © 2003 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/tcm.10052
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 003E50
- to stream Istex, to step Curation: 003E50
- to stream Istex, to step Checkpoint: 002179
- to stream Main, to step Merge: 009277
- to stream Main, to step Curation: 008F64
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">X chromosomal abnormalities in Indian adolescent girls</title><author><name sortKey="Ganguly, Bani Bandana" sort="Ganguly, Bani Bandana" uniqKey="Ganguly B" first="Bani Bandana" last="Ganguly">Bani Bandana Ganguly</name></author><author><name sortKey="Sahni, Sumedha" sort="Sahni, Sumedha" uniqKey="Sahni S" first="Sumedha" last="Sahni">Sumedha Sahni</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:846EA0BEF7CE64997D501F55DE67642B15E4C5AE</idno><date when="2003" year="2003">2003</date><idno type="doi">10.1002/tcm.10052</idno><idno type="url">https://api.istex.fr/document/846EA0BEF7CE64997D501F55DE67642B15E4C5AE/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">003E50</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">003E50</idno><idno type="wicri:Area/Istex/Curation">003E50</idno><idno type="wicri:Area/Istex/Checkpoint">002179</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">002179</idno><idno type="wicri:doubleKey">0270-3211:2003:Ganguly B:x:chromosomal:abnormalities</idno><idno type="wicri:Area/Main/Merge">009277</idno><idno type="wicri:Area/Main/Curation">008F64</idno><idno type="wicri:Area/Main/Exploration">008F64</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">X chromosomal abnormalities in Indian adolescent girls</title><author><name sortKey="Ganguly, Bani Bandana" sort="Ganguly, Bani Bandana" uniqKey="Ganguly B" first="Bani Bandana" last="Ganguly">Bani Bandana Ganguly</name><affiliation wicri:level="1"><country xml:lang="fr">Inde</country><wicri:regionArea>Cytogenetics Division, Clinical Reference Laboratories, SRL Ranbaxy Ltd., Mumbai</wicri:regionArea><wicri:noRegion>Mumbai</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Inde</country><wicri:regionArea>Cytogenetics Division, Clinical Reference Laboratories, SRL Ranbaxy Ltd., MIDC 113, 15th Street, Andheri (E), Mumbai 400 093</wicri:regionArea><wicri:noRegion>Mumbai 400 093</wicri:noRegion></affiliation></author><author><name sortKey="Sahni, Sumedha" sort="Sahni, Sumedha" uniqKey="Sahni S" first="Sumedha" last="Sahni">Sumedha Sahni</name><affiliation wicri:level="1"><country xml:lang="fr">Inde</country><wicri:regionArea>Cytogenetics Division, Clinical Reference Laboratories, SRL Ranbaxy Ltd., Mumbai</wicri:regionArea><wicri:noRegion>Mumbai</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Teratogenesis, Carcinogenesis, and Mutagenesis</title><title level="j" type="alt">TERATOGENESIS, CARCINOGENESIS, AND MUTAGENESIS</title><idno type="ISSN">0270-3211</idno><idno type="eISSN">1520-6866</idno><imprint><biblScope unit="vol">23</biblScope><biblScope unit="issue">S1</biblScope><biblScope unit="page" from="245">245</biblScope><biblScope unit="page" to="253">253</biblScope><biblScope unit="page-count">9</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="2003">2003</date></imprint><idno type="ISSN">0270-3211</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0270-3211</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">In girls of adolescent age, primary amenorrhea is a major problem and it is often suspected as Turner syndrome (TS), with complete or partial absence of one of the two X chromosomes. The girls who are unable to menstruate are primarily investigated by the gynecologists with the help of a physical examination, sonogram of the pelvis, endocrinologic tests, and ultimately cytogenetic analysis. Chromosomal analyses have been carried out in 280 such cases that were referred from different parts of the country. The standard protocol for peripheral blood lymphocyte culture was followed for metaphase chromosome preparation and conventional analysis of G‐banded chromosomes. A total of 29% cases were found to have some chromosomal abnormality, including TS and testicular feminization syndrome involving sex chromosomes. Amongst those with sex chromosomal anomaly, 34% had evidence of a 46,XY karyotype in phenotypic females and 51% had pure line 45,X or mosaic with normal XX or other aberrations in X. The classification of the TS group further showed the spectrum of variant TS in Indian adolescent girls who suffered from absence or delayed menarche to correspond well with the Belgian, Danish, or Russian population. However, it has been reported that only 1% of the pure line 45,X conception is viable, indicating the necessity of mosaicism with X or Y chromosome. It has been understood that conventional banding analysis is absolutely necessary for segregating the variant nature of TS. In addition, molecular genetic or molecular cytogenetic investigations can determine the nature of mosaicism. The present study further indicated the involvement of autosomes in causing improper sexual development in girls of adolescent age. Teratogenesis Carcinog. Mutagen. Suppl. 1:245–253, 2003. © 2003 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Inde</li></country></list><tree><country name="Inde"><noRegion><name sortKey="Ganguly, Bani Bandana" sort="Ganguly, Bani Bandana" uniqKey="Ganguly B" first="Bani Bandana" last="Ganguly">Bani Bandana Ganguly</name></noRegion><name sortKey="Ganguly, Bani Bandana" sort="Ganguly, Bani Bandana" uniqKey="Ganguly B" first="Bani Bandana" last="Ganguly">Bani Bandana Ganguly</name><name sortKey="Sahni, Sumedha" sort="Sahni, Sumedha" uniqKey="Sahni S" first="Sumedha" last="Sahni">Sumedha Sahni</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 008F64 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 008F64 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:846EA0BEF7CE64997D501F55DE67642B15E4C5AE
|texte= X chromosomal abnormalities in Indian adolescent girls
}}
| This area was generated with Dilib version V0.6.31. |  |