Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy
We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region betweenSTS and DXS31 spanning ap...
Gespeichert in:
| Hauptverfasser: | , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
August 1, 2000
|
| In: |
Journal of medical genetics
Year: 2000, Jahrgang: 37, Heft: 8, Pages: 600-602 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.37.8.600 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1136/jmg.37.8.600 Verlag, lizenzpflichtig, Volltext: https://jmg.bmj.com/content/37/8/600 
|
| Verfasserangaben: | B. C. Gohlke, K. Haug, M. Fukami, W. Friedl, M. Noeker, G. A. Rappold, F. Haverkamp |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1752319834 | ||
| 003 | DE-627 | ||
| 005 | 20230427020437.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 210324s2000 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1136/jmg.37.8.600 |2 doi | |
| 035 | |a (DE-627)1752319834 | ||
| 035 | |a (DE-599)KXP1752319834 | ||
| 035 | |a (OCoLC)1341400769 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Gohlke, Bernd |d 1959- |e VerfasserIn |0 (DE-588)118121375 |0 (DE-627)694687723 |0 (DE-576)291726240 |4 aut | |
| 245 | 1 | 0 | |a Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy |c B. C. Gohlke, K. Haug, M. Fukami, W. Friedl, M. Noeker, G. A. Rappold, F. Haverkamp |
| 264 | 1 | |c August 1, 2000 | |
| 300 | |a 3 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 24.03.2021 | ||
| 520 | |a We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region betweenSTS and DXS31 spanning approximately 3 Mb. Recently the locus was further refined to an approximately 1 Mb region between DXS1060 and GS1. By PCR analysis of flanking STS gene markers in our patients we succeeded in narrowing down the locus to between DXS6837 andGS1. | ||
| 650 | 4 | |a epilepsy | |
| 650 | 4 | |a Rudd syndrome | |
| 650 | 4 | |a X linked ichthyosis | |
| 650 | 4 | |a X linked mental retardation | |
| 650 | 4 | |a Xp22.3 deletion | |
| 700 | 1 | |a Haug, Karsten Georg |d 1966- |e VerfasserIn |0 (DE-588)120825759 |0 (DE-627)705017044 |0 (DE-576)292403976 |4 aut | |
| 700 | 1 | |a Fukami, Maki |e VerfasserIn |4 aut | |
| 700 | 1 | |a Friedl, Waltraut |e VerfasserIn |4 aut | |
| 700 | 1 | |a Noeker, Meinolf |d 1958- |e VerfasserIn |0 (DE-588)133825663 |0 (DE-627)556794915 |0 (DE-576)164407510 |4 aut | |
| 700 | 1 | |a Rappold, Gudrun |d 1954- |e VerfasserIn |0 (DE-588)102028319X |0 (DE-627)691169594 |0 (DE-576)359985947 |4 aut | |
| 700 | 1 | |a Haverkamp, Fritz |e VerfasserIn |0 (DE-588)172129133 |0 (DE-627)697042871 |0 (DE-576)133001377 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Journal of medical genetics |d London : BMJ Publishing Group, 1964 |g 37(2000), 8, Seite 600-602 |h Online-Ressource |w (DE-627)319102661 |w (DE-600)2009590-9 |w (DE-576)091210003 |x 1468-6244 |7 nnas |a Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy |
| 773 | 1 | 8 | |g volume:37 |g year:2000 |g number:8 |g pages:600-602 |g extent:3 |a Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy |
| 856 | 4 | 0 | |u https://doi.org/10.1136/jmg.37.8.600 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://jmg.bmj.com/content/37/8/600 |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20210324 | ||
| 993 | |a Article | ||
| 994 | |a 2000 | ||
| 998 | |g 102028319X |a Rappold, Gudrun |m 102028319X:Rappold, Gudrun |d 910000 |d 911500 |e 910000PR102028319X |e 911500PR102028319X |k 0/910000/ |k 1/910000/911500/ |p 6 | ||
| 999 | |a KXP-PPN1752319834 |e 3893591508 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"note":["Gesehen am 24.03.2021"],"type":{"bibl":"article-journal","media":"Online-Ressource"},"relHost":[{"title":[{"title_sort":"Journal of medical genetics","title":"Journal of medical genetics"}],"origin":[{"publisherPlace":"London","dateIssuedDisp":"1964-","dateIssuedKey":"1964","publisher":"BMJ Publishing Group"}],"id":{"issn":["1468-6244"],"zdb":["2009590-9"],"eki":["319102661"]},"disp":"Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsyJournal of medical genetics","language":["eng"],"part":{"issue":"8","pages":"600-602","volume":"37","text":"37(2000), 8, Seite 600-602","extent":"3","year":"2000"},"physDesc":[{"extent":"Online-Ressource"}],"recId":"319102661","note":["Gesehen am 12.08.20"],"type":{"media":"Online-Ressource","bibl":"periodical"},"pubHistory":["1.1964 -"],"titleAlt":[{"title":"JMG"},{"title":"Journal of medical genetics"}]}],"person":[{"family":"Gohlke","display":"Gohlke, Bernd","role":"aut","given":"Bernd"},{"family":"Haug","role":"aut","display":"Haug, Karsten Georg","given":"Karsten Georg"},{"family":"Fukami","display":"Fukami, Maki","role":"aut","given":"Maki"},{"given":"Waltraut","display":"Friedl, Waltraut","role":"aut","family":"Friedl"},{"given":"Meinolf","family":"Noeker","display":"Noeker, Meinolf","role":"aut"},{"family":"Rappold","display":"Rappold, Gudrun","role":"aut","given":"Gudrun"},{"family":"Haverkamp","display":"Haverkamp, Fritz","role":"aut","given":"Fritz"}],"title":[{"title_sort":"Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy","title":"Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy"}],"origin":[{"dateIssuedDisp":"August 1, 2000","dateIssuedKey":"2000"}],"name":{"displayForm":["B. C. Gohlke, K. Haug, M. Fukami, W. Friedl, M. Noeker, G. A. Rappold, F. Haverkamp"]},"id":{"doi":["10.1136/jmg.37.8.600"],"eki":["1752319834"]},"recId":"1752319834","physDesc":[{"extent":"3 S."}],"language":["eng"]} | ||
| SRT | |a GOHLKEBERNINTERSTITI1200 | ||