Incontinentia pigmenti in a male infant with Klinefelter syndrome
Incontinentia pigmenti is a familial disorder affecting tissues derived from neuroectoderm. Statistical analysis of reported pedigrees is consistent with transmission of incontinentia pigmenti by an X-Iinked dominant gene with male hemizygote lethality. This report describes a male infant with the c...
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| Veröffentlicht in: | Journal of the American Academy of Dermatology 1989-05, Vol.20 (5), p.937-940 |
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| container_title | Journal of the American Academy of Dermatology |
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| creator | Prendiville, J.S. Gorski, Jerome L. Stein, Constance K. Esterly, Nancy Burton |
| description | Incontinentia pigmenti is a familial disorder affecting tissues derived from neuroectoderm. Statistical analysis of reported pedigrees is consistent with transmission of incontinentia pigmenti by an X-Iinked dominant gene with male hemizygote lethality. This report describes a male infant with the classic clinical features of this condition and a 47.XXY chromosomal constitution. These findings support the concept that incontinentia pigmenti is an X-linked dominant disorder. This case illustrates the importance of a full genetic investigation in all males with physical findings suggestive of an X-linked dominant disorder lethal in males. |
| doi_str_mv | 10.1016/S0190-9622(89)70114-6 |
| format | Article |
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Statistical analysis of reported pedigrees is consistent with transmission of incontinentia pigmenti by an X-Iinked dominant gene with male hemizygote lethality. This report describes a male infant with the classic clinical features of this condition and a 47.XXY chromosomal constitution. These findings support the concept that incontinentia pigmenti is an X-linked dominant disorder. This case illustrates the importance of a full genetic investigation in all males with physical findings suggestive of an X-linked dominant disorder lethal in males.</description><identifier>ISSN: 0190-9622</identifier><identifier>EISSN: 1097-6787</identifier><identifier>DOI: 10.1016/S0190-9622(89)70114-6</identifier><identifier>PMID: 2715449</identifier><identifier>CODEN: JAADDB</identifier><language>eng</language><publisher>New York, NY: Mosby, Inc</publisher><subject>Biological and medical sciences ; Genetic Linkage ; Gynecology. Andrology. 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Statistical analysis of reported pedigrees is consistent with transmission of incontinentia pigmenti by an X-Iinked dominant gene with male hemizygote lethality. This report describes a male infant with the classic clinical features of this condition and a 47.XXY chromosomal constitution. These findings support the concept that incontinentia pigmenti is an X-linked dominant disorder. This case illustrates the importance of a full genetic investigation in all males with physical findings suggestive of an X-linked dominant disorder lethal in males.</description><subject>Biological and medical sciences</subject><subject>Genetic Linkage</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Incontinentia Pigmenti - complications</subject><subject>Incontinentia Pigmenti - genetics</subject><subject>Infant</subject><subject>Klinefelter Syndrome - complications</subject><subject>Klinefelter Syndrome - diagnosis</subject><subject>Male</subject><subject>Male genital diseases</subject><subject>Medical sciences</subject><subject>Non tumoral diseases</subject><subject>Pigmentation Disorders - genetics</subject><subject>X Chromosome</subject><issn>0190-9622</issn><issn>1097-6787</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1989</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtLxDAQgIMouj5-gtCLoodqHm3SnETEFwoe1HPITicaadM16Sr-e7PuokcvyTDzzYOPkH1GTxhl8vSRMk1LLTk_avSxooxVpVwjE0a1KqVq1DqZ_CJbZDulN0qproTaJJtcsbqq9ISc3wYYwugD5scWM__SL6LCh8IWve0wR86Gsfj042tx12XQYTdiLNJXaOPQ4y7ZcLZLuLf6d8jz1eXTxU15_3B9e3F-X0LF9FiyqagYY8BlI1VlUSEHgNY1aFuh3BRyhtZ144SFiktnOQOnwDHphKbaiR1yuJw7i8P7HNNoep8Au84GHObJqEarupEig_UShDikFNGZWfS9jV-GUbNQZ37UmYUX02jzo87I3Le_WjCf9tj-dq1c5frBqm4T2M5FG8Cnv-FaCsoFz9zZksNs48NjNAk8BsDWR4TRtIP_55Jv_X2LdA</recordid><startdate>19890501</startdate><enddate>19890501</enddate><creator>Prendiville, J.S.</creator><creator>Gorski, Jerome L.</creator><creator>Stein, Constance K.</creator><creator>Esterly, Nancy Burton</creator><general>Mosby, Inc</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19890501</creationdate><title>Incontinentia pigmenti in a male infant with Klinefelter syndrome</title><author>Prendiville, J.S. ; Gorski, Jerome L. ; Stein, Constance K. ; Esterly, Nancy Burton</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c419t-1b34111c268674ae7e2cccdf8ead37fbce7e0558f3ac426fa21cf7cf16f3909f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1989</creationdate><topic>Biological and medical sciences</topic><topic>Genetic Linkage</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Incontinentia Pigmenti - complications</topic><topic>Incontinentia Pigmenti - genetics</topic><topic>Infant</topic><topic>Klinefelter Syndrome - complications</topic><topic>Klinefelter Syndrome - diagnosis</topic><topic>Male</topic><topic>Male genital diseases</topic><topic>Medical sciences</topic><topic>Non tumoral diseases</topic><topic>Pigmentation Disorders - genetics</topic><topic>X Chromosome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Prendiville, J.S.</creatorcontrib><creatorcontrib>Gorski, Jerome L.</creatorcontrib><creatorcontrib>Stein, Constance K.</creatorcontrib><creatorcontrib>Esterly, Nancy Burton</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of the American Academy of Dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Prendiville, J.S.</au><au>Gorski, Jerome L.</au><au>Stein, Constance K.</au><au>Esterly, Nancy Burton</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Incontinentia pigmenti in a male infant with Klinefelter syndrome</atitle><jtitle>Journal of the American Academy of Dermatology</jtitle><addtitle>J Am Acad Dermatol</addtitle><date>1989-05-01</date><risdate>1989</risdate><volume>20</volume><issue>5</issue><spage>937</spage><epage>940</epage><pages>937-940</pages><issn>0190-9622</issn><eissn>1097-6787</eissn><coden>JAADDB</coden><abstract>Incontinentia pigmenti is a familial disorder affecting tissues derived from neuroectoderm. Statistical analysis of reported pedigrees is consistent with transmission of incontinentia pigmenti by an X-Iinked dominant gene with male hemizygote lethality. This report describes a male infant with the classic clinical features of this condition and a 47.XXY chromosomal constitution. These findings support the concept that incontinentia pigmenti is an X-linked dominant disorder. This case illustrates the importance of a full genetic investigation in all males with physical findings suggestive of an X-linked dominant disorder lethal in males.</abstract><cop>New York, NY</cop><pub>Mosby, Inc</pub><pmid>2715449</pmid><doi>10.1016/S0190-9622(89)70114-6</doi><tpages>4</tpages></addata></record> |
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| identifier | ISSN: 0190-9622 |
| ispartof | Journal of the American Academy of Dermatology, 1989-05, Vol.20 (5), p.937-940 |
| issn | 0190-9622 1097-6787 |
| language | eng |
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| source | MEDLINE; Access via ScienceDirect (Elsevier) |
| subjects | Biological and medical sciences Genetic Linkage Gynecology. Andrology. Obstetrics Humans Incontinentia Pigmenti - complications Incontinentia Pigmenti - genetics Infant Klinefelter Syndrome - complications Klinefelter Syndrome - diagnosis Male Male genital diseases Medical sciences Non tumoral diseases Pigmentation Disorders - genetics X Chromosome |
| title | Incontinentia pigmenti in a male infant with Klinefelter syndrome |
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