Eintrag weiter verarbeiten
Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence
Gespeichert in:
| Zeitschriftentitel: | American Journal of Medical Genetics |
|---|---|
| Personen und Körperschaften: | , , , |
| In: | American Journal of Medical Genetics, 49, 1994, 1, S. 67-73 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
|
| Schlagwörter: |
| author_facet |
Lindgren, Valerie Rosinsky, Barbara Chin, Janet Berry‐Kravis, Elizabeth Lindgren, Valerie Rosinsky, Barbara Chin, Janet Berry‐Kravis, Elizabeth |
|---|---|
| author |
Lindgren, Valerie Rosinsky, Barbara Chin, Janet Berry‐Kravis, Elizabeth |
| spellingShingle |
Lindgren, Valerie Rosinsky, Barbara Chin, Janet Berry‐Kravis, Elizabeth American Journal of Medical Genetics Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence Genetics (clinical) |
| author_sort |
lindgren, valerie |
| spelling |
Lindgren, Valerie Rosinsky, Barbara Chin, Janet Berry‐Kravis, Elizabeth 0148-7299 1096-8628 Wiley Genetics (clinical) http://dx.doi.org/10.1002/ajmg.1320490112 <jats:title>Abstract</jats:title><jats:p>Duplications of chromosome 9q are rare. We describe the cytogenetic and phenotypic findings in 2 patients, one with a large duplication covering most of 9q (q12–q33.2) and one with a smaller duplication (q21.12–q22.1) who had Di George sequence (DGS). The chromosome 9 origin of the extra material in the second case was confirmed by fluorescence in situ hybridization (FISH) analysis with a whole chromosome 9 paint. Microdeletions of chromosome 22 are common in DGS and have been reported in CHARGE association. This is the first report of an association of a chromosome 9 abnormality with DGS in the absence of a chromosome 22 abnormality and the seventh report of a patient with a duplication of a large portion of 9q (q11–q13 to q32–q33). © 1994 Wiley‐Liss, Inc.</jats:p> Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence American Journal of Medical Genetics |
| doi_str_mv |
10.1002/ajmg.1320490112 |
| facet_avail |
Online |
| format |
ElectronicArticle |
| fullrecord |
blob:ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTAwMi9ham1nLjEzMjA0OTAxMTI |
| id |
ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTAwMi9ham1nLjEzMjA0OTAxMTI |
| institution |
DE-D275 DE-Bn3 DE-Brt1 DE-D161 DE-Gla1 DE-Zi4 DE-15 DE-Rs1 DE-Pl11 DE-105 DE-14 DE-Ch1 DE-L229 |
| imprint |
Wiley, 1994 |
| imprint_str_mv |
Wiley, 1994 |
| issn |
0148-7299 1096-8628 |
| issn_str_mv |
0148-7299 1096-8628 |
| language |
English |
| mega_collection |
Wiley (CrossRef) |
| match_str |
lindgren1994twopatientswithoverlappingdenovoduplicationsofthelongarmofchromosome9includingonecasewithdigeorgesequence |
| publishDateSort |
1994 |
| publisher |
Wiley |
| recordtype |
ai |
| record_format |
ai |
| series |
American Journal of Medical Genetics |
| source_id |
49 |
| title |
Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence |
| title_unstemmed |
Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence |
| title_full |
Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence |
| title_fullStr |
Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence |
| title_full_unstemmed |
Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence |
| title_short |
Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence |
| title_sort |
two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with di george sequence |
| topic |
Genetics (clinical) |
| url |
http://dx.doi.org/10.1002/ajmg.1320490112 |
| publishDate |
1994 |
| physical |
67-73 |
| description |
<jats:title>Abstract</jats:title><jats:p>Duplications of chromosome 9q are rare. We describe the cytogenetic and phenotypic findings in 2 patients, one with a large duplication covering most of 9q (q12–q33.2) and one with a smaller duplication (q21.12–q22.1) who had Di George sequence (DGS). The chromosome 9 origin of the extra material in the second case was confirmed by fluorescence in situ hybridization (FISH) analysis with a whole chromosome 9 paint. Microdeletions of chromosome 22 are common in DGS and have been reported in CHARGE association. This is the first report of an association of a chromosome 9 abnormality with DGS in the absence of a chromosome 22 abnormality and the seventh report of a patient with a duplication of a large portion of 9q (q11–q13 to q32–q33). © 1994 Wiley‐Liss, Inc.</jats:p> |
| container_issue |
1 |
| container_start_page |
67 |
| container_title |
American Journal of Medical Genetics |
| container_volume |
49 |
| format_de105 |
Article, E-Article |
| format_de14 |
Article, E-Article |
| format_de15 |
Article, E-Article |
| format_de520 |
Article, E-Article |
| format_de540 |
Article, E-Article |
| format_dech1 |
Article, E-Article |
| format_ded117 |
Article, E-Article |
| format_degla1 |
E-Article |
| format_del152 |
Buch |
| format_del189 |
Article, E-Article |
| format_dezi4 |
Article |
| format_dezwi2 |
Article, E-Article |
| format_finc |
Article, E-Article |
| format_nrw |
Article, E-Article |
| _version_ |
1792338993577197574 |
| geogr_code |
not assigned |
| last_indexed |
2024-03-01T15:40:56.716Z |
| geogr_code_person |
not assigned |
| openURL |
url_ver=Z39.88-2004&ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fvufind.svn.sourceforge.net%3Agenerator&rft.title=Two+patients+with+overlapping+de+novo+duplications+of+the+long+arm+of+chromosome+9%2C+including+one+case+with+Di+George+sequence&rft.date=1994-01-01&genre=article&issn=1096-8628&volume=49&issue=1&spage=67&epage=73&pages=67-73&jtitle=American+Journal+of+Medical+Genetics&atitle=Two+patients+with+overlapping+de+novo+duplications+of+the+long+arm+of+chromosome+9%2C+including+one+case+with+Di+George+sequence&aulast=Berry%E2%80%90Kravis&aufirst=Elizabeth&rft_id=info%3Adoi%2F10.1002%2Fajmg.1320490112&rft.language%5B0%5D=eng |
| SOLR | |
| _version_ | 1792338993577197574 |
| author | Lindgren, Valerie, Rosinsky, Barbara, Chin, Janet, Berry‐Kravis, Elizabeth |
| author_facet | Lindgren, Valerie, Rosinsky, Barbara, Chin, Janet, Berry‐Kravis, Elizabeth, Lindgren, Valerie, Rosinsky, Barbara, Chin, Janet, Berry‐Kravis, Elizabeth |
| author_sort | lindgren, valerie |
| container_issue | 1 |
| container_start_page | 67 |
| container_title | American Journal of Medical Genetics |
| container_volume | 49 |
| description | <jats:title>Abstract</jats:title><jats:p>Duplications of chromosome 9q are rare. We describe the cytogenetic and phenotypic findings in 2 patients, one with a large duplication covering most of 9q (q12–q33.2) and one with a smaller duplication (q21.12–q22.1) who had Di George sequence (DGS). The chromosome 9 origin of the extra material in the second case was confirmed by fluorescence in situ hybridization (FISH) analysis with a whole chromosome 9 paint. Microdeletions of chromosome 22 are common in DGS and have been reported in CHARGE association. This is the first report of an association of a chromosome 9 abnormality with DGS in the absence of a chromosome 22 abnormality and the seventh report of a patient with a duplication of a large portion of 9q (q11–q13 to q32–q33). © 1994 Wiley‐Liss, Inc.</jats:p> |
| doi_str_mv | 10.1002/ajmg.1320490112 |
| facet_avail | Online |
| format | ElectronicArticle |
| format_de105 | Article, E-Article |
| format_de14 | Article, E-Article |
| format_de15 | Article, E-Article |
| format_de520 | Article, E-Article |
| format_de540 | Article, E-Article |
| format_dech1 | Article, E-Article |
| format_ded117 | Article, E-Article |
| format_degla1 | E-Article |
| format_del152 | Buch |
| format_del189 | Article, E-Article |
| format_dezi4 | Article |
| format_dezwi2 | Article, E-Article |
| format_finc | Article, E-Article |
| format_nrw | Article, E-Article |
| geogr_code | not assigned |
| geogr_code_person | not assigned |
| id | ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTAwMi9ham1nLjEzMjA0OTAxMTI |
| imprint | Wiley, 1994 |
| imprint_str_mv | Wiley, 1994 |
| institution | DE-D275, DE-Bn3, DE-Brt1, DE-D161, DE-Gla1, DE-Zi4, DE-15, DE-Rs1, DE-Pl11, DE-105, DE-14, DE-Ch1, DE-L229 |
| issn | 0148-7299, 1096-8628 |
| issn_str_mv | 0148-7299, 1096-8628 |
| language | English |
| last_indexed | 2024-03-01T15:40:56.716Z |
| match_str | lindgren1994twopatientswithoverlappingdenovoduplicationsofthelongarmofchromosome9includingonecasewithdigeorgesequence |
| mega_collection | Wiley (CrossRef) |
| physical | 67-73 |
| publishDate | 1994 |
| publishDateSort | 1994 |
| publisher | Wiley |
| record_format | ai |
| recordtype | ai |
| series | American Journal of Medical Genetics |
| source_id | 49 |
| spelling | Lindgren, Valerie Rosinsky, Barbara Chin, Janet Berry‐Kravis, Elizabeth 0148-7299 1096-8628 Wiley Genetics (clinical) http://dx.doi.org/10.1002/ajmg.1320490112 <jats:title>Abstract</jats:title><jats:p>Duplications of chromosome 9q are rare. We describe the cytogenetic and phenotypic findings in 2 patients, one with a large duplication covering most of 9q (q12–q33.2) and one with a smaller duplication (q21.12–q22.1) who had Di George sequence (DGS). The chromosome 9 origin of the extra material in the second case was confirmed by fluorescence in situ hybridization (FISH) analysis with a whole chromosome 9 paint. Microdeletions of chromosome 22 are common in DGS and have been reported in CHARGE association. This is the first report of an association of a chromosome 9 abnormality with DGS in the absence of a chromosome 22 abnormality and the seventh report of a patient with a duplication of a large portion of 9q (q11–q13 to q32–q33). © 1994 Wiley‐Liss, Inc.</jats:p> Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence American Journal of Medical Genetics |
| spellingShingle | Lindgren, Valerie, Rosinsky, Barbara, Chin, Janet, Berry‐Kravis, Elizabeth, American Journal of Medical Genetics, Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence, Genetics (clinical) |
| title | Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence |
| title_full | Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence |
| title_fullStr | Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence |
| title_full_unstemmed | Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence |
| title_short | Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence |
| title_sort | two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with di george sequence |
| title_unstemmed | Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence |
| topic | Genetics (clinical) |
| url | http://dx.doi.org/10.1002/ajmg.1320490112 |