Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male
Identifieur interne : 001A00 ( Istex/Curation ); précédent : 001999; suivant : 001A01Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male
Auteurs : L. Stuppia ; G. Calabrese ; P. Borrelli ; V. Gatta ; E. Morizio ; R. Mingarelli ; M C Di Gilio ; A. Crin ; A. Giannotti ; G A Rappold ; G. PalkaSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 1999-09-01.
Abstract
A male patient is reported with a 45,X karyotype and Leri-Weill dyschondrosteosis (LWD). FISH analysis withSHOX and SRY gene probes was carried out. One copy of bothSHOX and SRY was detected in interphase nuclei, clarifying the origin of LWD and the male phenotype. Molecular results suggested that the 45,X karyotype arose through two independent events. The first occurred at paternal meiosis leading to an unequal crossing over between the short arms of the X and Y chromosomes. As a consequence, theSRY gene was translocated onto Xp, thereby explaining the male phenotype of the patient. The second event probably occurred at maternal meiosis or at the early stages of the zygote resulting in the loss of the maternal X chromosome.
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DOI: 10.1136/jmg.36.9.711
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L. Stuppia<affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation>Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male</title><author><name sortKey="Stuppia, L" sort="Stuppia, L" uniqKey="Stuppia L" first="L" last="Stuppia">L. Stuppia</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Calabrese, G" sort="Calabrese, G" uniqKey="Calabrese G" first="G" last="Calabrese">G. Calabrese</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Borrelli, P" sort="Borrelli, P" uniqKey="Borrelli P" first="P" last="Borrelli">P. Borrelli</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Gatta, V" sort="Gatta, V" uniqKey="Gatta V" first="V" last="Gatta">V. Gatta</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Morizio, E" sort="Morizio, E" uniqKey="Morizio E" first="E" last="Morizio">E. Morizio</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Mingarelli, R" sort="Mingarelli, R" uniqKey="Mingarelli R" first="R" last="Mingarelli">R. Mingarelli</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Di Gilio, M C" sort="Di Gilio, M C" uniqKey="Di Gilio M" first="M C" last="Di Gilio">M C Di Gilio</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Crin, A" sort="Crin, A" uniqKey="Crin A" first="A" last="Crin">A. Crin</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Giannotti, A" sort="Giannotti, A" uniqKey="Giannotti A" first="A" last="Giannotti">A. Giannotti</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Rappold, G A" sort="Rappold, G A" uniqKey="Rappold G" first="G A" last="Rappold">G A Rappold</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Palka, G" sort="Palka, G" uniqKey="Palka G" first="G" last="Palka">G. Palka</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:382D81CFFC0597525C061D92FC85356C31426F03</idno><date when="1999" year="1999">1999</date><idno type="doi">10.1136/jmg.36.9.711</idno><idno type="url">https://api.istex.fr/document/382D81CFFC0597525C061D92FC85356C31426F03/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001A00</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">001A00</idno><idno type="wicri:Area/Istex/Curation">001A00</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male</title><author><name sortKey="Stuppia, L" sort="Stuppia, L" uniqKey="Stuppia L" first="L" last="Stuppia">L. Stuppia</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Calabrese, G" sort="Calabrese, G" uniqKey="Calabrese G" first="G" last="Calabrese">G. Calabrese</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Borrelli, P" sort="Borrelli, P" uniqKey="Borrelli P" first="P" last="Borrelli">P. Borrelli</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Gatta, V" sort="Gatta, V" uniqKey="Gatta V" first="V" last="Gatta">V. Gatta</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Morizio, E" sort="Morizio, E" uniqKey="Morizio E" first="E" last="Morizio">E. Morizio</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Mingarelli, R" sort="Mingarelli, R" uniqKey="Mingarelli R" first="R" last="Mingarelli">R. Mingarelli</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Di Gilio, M C" sort="Di Gilio, M C" uniqKey="Di Gilio M" first="M C" last="Di Gilio">M C Di Gilio</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Crin, A" sort="Crin, A" uniqKey="Crin A" first="A" last="Crin">A. Crin</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Giannotti, A" sort="Giannotti, A" uniqKey="Giannotti A" first="A" last="Giannotti">A. Giannotti</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Rappold, G A" sort="Rappold, G A" uniqKey="Rappold G" first="G A" last="Rappold">G A Rappold</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author><author><name sortKey="Palka, G" sort="Palka, G" uniqKey="Palka G" first="G" last="Palka">G. Palka</name><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="1999-09-01">1999-09-01</date><biblScope unit="volume">36</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="711">711</biblScope></imprint><idno type="ISSN">0022-2593</idno></series><idno type="istex">382D81CFFC0597525C061D92FC85356C31426F03</idno><idno type="DOI">10.1136/jmg.36.9.711</idno><idno type="href">jmedgenet-36-711.pdf</idno><idno type="PMID">10507731</idno><idno type="local">jmedgenet;36/9/711</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A male patient is reported with a 45,X karyotype and Leri-Weill dyschondrosteosis (LWD). FISH analysis withSHOX and SRY gene probes was carried out. One copy of bothSHOX and SRY was detected in interphase nuclei, clarifying the origin of LWD and the male phenotype. Molecular results suggested that the 45,X karyotype arose through two independent events. The first occurred at paternal meiosis leading to an unequal crossing over between the short arms of the X and Y chromosomes. As a consequence, theSRY gene was translocated onto Xp, thereby explaining the male phenotype of the patient. The second event probably occurred at maternal meiosis or at the early stages of the zygote resulting in the loss of the maternal X chromosome.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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