Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder
We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplicatio...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Karim Ouldim [verfasserIn] Abdelhafid Natiq [verfasserIn] Philippe Jonveaux [verfasserIn] Abdelaziz Sefiani [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2007 |
|---|
| Übergeordnetes Werk: |
In: BioMed Research International - Hindawi Limited, 2013, (2007) |
|---|---|
| Übergeordnetes Werk: |
year:2007 |
| Links: |
|---|
| DOI / URN: |
10.1155/2007/61538 |
|---|
| Katalog-ID: |
DOAJ070970076 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | DOAJ070970076 | ||
| 003 | DE-627 | ||
| 005 | 20230309095238.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 230228s2007 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1155/2007/61538 |2 doi | |
| 035 | |a (DE-627)DOAJ070970076 | ||
| 035 | |a (DE-599)DOAJ260bcf6d93354ca194369cf157c1be86 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 0 | |a Karim Ouldim |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder |
| 264 | 1 | |c 2007 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 520 | |a We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluorescence in situ hybridization (FISH) enabled us to specify the diagnosis. Interestingly, this patient has an infantile autism with cytogenetic abnormalities on chromosomal region 15q11-q13 as reported in patients with Autistic Disorder. | ||
| 653 | 0 | |a Medicine | |
| 653 | 0 | |a R | |
| 700 | 0 | |a Abdelhafid Natiq |e verfasserin |4 aut | |
| 700 | 0 | |a Philippe Jonveaux |e verfasserin |4 aut | |
| 700 | 0 | |a Abdelaziz Sefiani |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i In |t BioMed Research International |d Hindawi Limited, 2013 |g (2007) |w (DE-627)734738145 |w (DE-600)2698540-8 |x 23146141 |7 nnns |
| 773 | 1 | 8 | |g year:2007 |
| 856 | 4 | 0 | |u https://doi.org/10.1155/2007/61538 |z kostenfrei |
| 856 | 4 | 0 | |u https://doaj.org/article/260bcf6d93354ca194369cf157c1be86 |z kostenfrei |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1155/2007/61538 |z kostenfrei |
| 856 | 4 | 2 | |u https://doaj.org/toc/2314-6141 |y Journal toc |z kostenfrei |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a SYSFLAG_A | ||
| 912 | |a GBV_DOAJ | ||
| 912 | |a GBV_ILN_20 | ||
| 912 | |a GBV_ILN_22 | ||
| 912 | |a GBV_ILN_23 | ||
| 912 | |a GBV_ILN_24 | ||
| 912 | |a GBV_ILN_31 | ||
| 912 | |a GBV_ILN_40 | ||
| 912 | |a GBV_ILN_60 | ||
| 912 | |a GBV_ILN_62 | ||
| 912 | |a GBV_ILN_65 | ||
| 912 | |a GBV_ILN_69 | ||
| 912 | |a GBV_ILN_73 | ||
| 912 | |a GBV_ILN_95 | ||
| 912 | |a GBV_ILN_110 | ||
| 912 | |a GBV_ILN_161 | ||
| 912 | |a GBV_ILN_165 | ||
| 912 | |a GBV_ILN_170 | ||
| 912 | |a GBV_ILN_206 | ||
| 912 | |a GBV_ILN_285 | ||
| 912 | |a GBV_ILN_293 | ||
| 912 | |a GBV_ILN_602 | ||
| 951 | |a AR | ||
| 952 | |j 2007 | ||
| author_variant |
k o ko a n an p j pj a s as |
|---|---|
| matchkey_str |
article:23146141:2007----::ersm1q11dansdyihnpteti |
| hierarchy_sort_str |
2007 |
| publishDate |
2007 |
| allfields |
10.1155/2007/61538 doi (DE-627)DOAJ070970076 (DE-599)DOAJ260bcf6d93354ca194369cf157c1be86 DE-627 ger DE-627 rakwb eng Karim Ouldim verfasserin aut Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluorescence in situ hybridization (FISH) enabled us to specify the diagnosis. Interestingly, this patient has an infantile autism with cytogenetic abnormalities on chromosomal region 15q11-q13 as reported in patients with Autistic Disorder. Medicine R Abdelhafid Natiq verfasserin aut Philippe Jonveaux verfasserin aut Abdelaziz Sefiani verfasserin aut In BioMed Research International Hindawi Limited, 2013 (2007) (DE-627)734738145 (DE-600)2698540-8 23146141 nnns year:2007 https://doi.org/10.1155/2007/61538 kostenfrei https://doaj.org/article/260bcf6d93354ca194369cf157c1be86 kostenfrei http://dx.doi.org/10.1155/2007/61538 kostenfrei https://doaj.org/toc/2314-6141 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_95 GBV_ILN_110 GBV_ILN_161 GBV_ILN_165 GBV_ILN_170 GBV_ILN_206 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 AR 2007 |
| spelling |
10.1155/2007/61538 doi (DE-627)DOAJ070970076 (DE-599)DOAJ260bcf6d93354ca194369cf157c1be86 DE-627 ger DE-627 rakwb eng Karim Ouldim verfasserin aut Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluorescence in situ hybridization (FISH) enabled us to specify the diagnosis. Interestingly, this patient has an infantile autism with cytogenetic abnormalities on chromosomal region 15q11-q13 as reported in patients with Autistic Disorder. Medicine R Abdelhafid Natiq verfasserin aut Philippe Jonveaux verfasserin aut Abdelaziz Sefiani verfasserin aut In BioMed Research International Hindawi Limited, 2013 (2007) (DE-627)734738145 (DE-600)2698540-8 23146141 nnns year:2007 https://doi.org/10.1155/2007/61538 kostenfrei https://doaj.org/article/260bcf6d93354ca194369cf157c1be86 kostenfrei http://dx.doi.org/10.1155/2007/61538 kostenfrei https://doaj.org/toc/2314-6141 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_95 GBV_ILN_110 GBV_ILN_161 GBV_ILN_165 GBV_ILN_170 GBV_ILN_206 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 AR 2007 |
| allfields_unstemmed |
10.1155/2007/61538 doi (DE-627)DOAJ070970076 (DE-599)DOAJ260bcf6d93354ca194369cf157c1be86 DE-627 ger DE-627 rakwb eng Karim Ouldim verfasserin aut Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluorescence in situ hybridization (FISH) enabled us to specify the diagnosis. Interestingly, this patient has an infantile autism with cytogenetic abnormalities on chromosomal region 15q11-q13 as reported in patients with Autistic Disorder. Medicine R Abdelhafid Natiq verfasserin aut Philippe Jonveaux verfasserin aut Abdelaziz Sefiani verfasserin aut In BioMed Research International Hindawi Limited, 2013 (2007) (DE-627)734738145 (DE-600)2698540-8 23146141 nnns year:2007 https://doi.org/10.1155/2007/61538 kostenfrei https://doaj.org/article/260bcf6d93354ca194369cf157c1be86 kostenfrei http://dx.doi.org/10.1155/2007/61538 kostenfrei https://doaj.org/toc/2314-6141 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_95 GBV_ILN_110 GBV_ILN_161 GBV_ILN_165 GBV_ILN_170 GBV_ILN_206 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 AR 2007 |
| allfieldsGer |
10.1155/2007/61538 doi (DE-627)DOAJ070970076 (DE-599)DOAJ260bcf6d93354ca194369cf157c1be86 DE-627 ger DE-627 rakwb eng Karim Ouldim verfasserin aut Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluorescence in situ hybridization (FISH) enabled us to specify the diagnosis. Interestingly, this patient has an infantile autism with cytogenetic abnormalities on chromosomal region 15q11-q13 as reported in patients with Autistic Disorder. Medicine R Abdelhafid Natiq verfasserin aut Philippe Jonveaux verfasserin aut Abdelaziz Sefiani verfasserin aut In BioMed Research International Hindawi Limited, 2013 (2007) (DE-627)734738145 (DE-600)2698540-8 23146141 nnns year:2007 https://doi.org/10.1155/2007/61538 kostenfrei https://doaj.org/article/260bcf6d93354ca194369cf157c1be86 kostenfrei http://dx.doi.org/10.1155/2007/61538 kostenfrei https://doaj.org/toc/2314-6141 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_95 GBV_ILN_110 GBV_ILN_161 GBV_ILN_165 GBV_ILN_170 GBV_ILN_206 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 AR 2007 |
| allfieldsSound |
10.1155/2007/61538 doi (DE-627)DOAJ070970076 (DE-599)DOAJ260bcf6d93354ca194369cf157c1be86 DE-627 ger DE-627 rakwb eng Karim Ouldim verfasserin aut Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluorescence in situ hybridization (FISH) enabled us to specify the diagnosis. Interestingly, this patient has an infantile autism with cytogenetic abnormalities on chromosomal region 15q11-q13 as reported in patients with Autistic Disorder. Medicine R Abdelhafid Natiq verfasserin aut Philippe Jonveaux verfasserin aut Abdelaziz Sefiani verfasserin aut In BioMed Research International Hindawi Limited, 2013 (2007) (DE-627)734738145 (DE-600)2698540-8 23146141 nnns year:2007 https://doi.org/10.1155/2007/61538 kostenfrei https://doaj.org/article/260bcf6d93354ca194369cf157c1be86 kostenfrei http://dx.doi.org/10.1155/2007/61538 kostenfrei https://doaj.org/toc/2314-6141 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_95 GBV_ILN_110 GBV_ILN_161 GBV_ILN_165 GBV_ILN_170 GBV_ILN_206 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 AR 2007 |
| language |
English |
| source |
In BioMed Research International (2007) year:2007 |
| sourceStr |
In BioMed Research International (2007) year:2007 |
| format_phy_str_mv |
Article |
| institution |
findex.gbv.de |
| topic_facet |
Medicine R |
| isfreeaccess_bool |
true |
| container_title |
BioMed Research International |
| authorswithroles_txt_mv |
Karim Ouldim @@aut@@ Abdelhafid Natiq @@aut@@ Philippe Jonveaux @@aut@@ Abdelaziz Sefiani @@aut@@ |
| publishDateDaySort_date |
2007-01-01T00:00:00Z |
| hierarchy_top_id |
734738145 |
| id |
DOAJ070970076 |
| language_de |
englisch |
| fullrecord |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ070970076</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230309095238.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230228s2007 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1155/2007/61538</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ070970076</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJ260bcf6d93354ca194369cf157c1be86</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Karim Ouldim</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2007</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluorescence in situ hybridization (FISH) enabled us to specify the diagnosis. Interestingly, this patient has an infantile autism with cytogenetic abnormalities on chromosomal region 15q11-q13 as reported in patients with Autistic Disorder.</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Medicine</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">R</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Abdelhafid Natiq</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Philippe Jonveaux</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Abdelaziz Sefiani</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">In</subfield><subfield code="t">BioMed Research International</subfield><subfield code="d">Hindawi Limited, 2013</subfield><subfield code="g">(2007)</subfield><subfield code="w">(DE-627)734738145</subfield><subfield code="w">(DE-600)2698540-8</subfield><subfield code="x">23146141</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">year:2007</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1155/2007/61538</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doaj.org/article/260bcf6d93354ca194369cf157c1be86</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">http://dx.doi.org/10.1155/2007/61538</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/2314-6141</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_DOAJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_20</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_22</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_23</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_24</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_31</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_40</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_60</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_62</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_65</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_69</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_73</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_95</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_110</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_161</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_165</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_170</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_206</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_285</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_293</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_602</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="j">2007</subfield></datafield></record></collection>
|
| author |
Karim Ouldim |
| spellingShingle |
Karim Ouldim misc Medicine misc R Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder |
| authorStr |
Karim Ouldim |
| ppnlink_with_tag_str_mv |
@@773@@(DE-627)734738145 |
| format |
electronic Article |
| delete_txt_mv |
keep |
| author_role |
aut aut aut aut |
| collection |
DOAJ |
| remote_str |
true |
| illustrated |
Not Illustrated |
| issn |
23146141 |
| topic_title |
Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder |
| topic |
misc Medicine misc R |
| topic_unstemmed |
misc Medicine misc R |
| topic_browse |
misc Medicine misc R |
| format_facet |
Elektronische Aufsätze Aufsätze Elektronische Ressource |
| format_main_str_mv |
Text Zeitschrift/Artikel |
| carriertype_str_mv |
cr |
| hierarchy_parent_title |
BioMed Research International |
| hierarchy_parent_id |
734738145 |
| hierarchy_top_title |
BioMed Research International |
| isfreeaccess_txt |
true |
| familylinks_str_mv |
(DE-627)734738145 (DE-600)2698540-8 |
| title |
Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder |
| ctrlnum |
(DE-627)DOAJ070970076 (DE-599)DOAJ260bcf6d93354ca194369cf157c1be86 |
| title_full |
Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder |
| author_sort |
Karim Ouldim |
| journal |
BioMed Research International |
| journalStr |
BioMed Research International |
| lang_code |
eng |
| isOA_bool |
true |
| recordtype |
marc |
| publishDateSort |
2007 |
| contenttype_str_mv |
txt |
| author_browse |
Karim Ouldim Abdelhafid Natiq Philippe Jonveaux Abdelaziz Sefiani |
| format_se |
Elektronische Aufsätze |
| author-letter |
Karim Ouldim |
| doi_str_mv |
10.1155/2007/61538 |
| author2-role |
verfasserin |
| title_sort |
tetrasomy 15q11-q13 diagnosed by fish in a patient with autistic disorder |
| title_auth |
Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder |
| abstract |
We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluorescence in situ hybridization (FISH) enabled us to specify the diagnosis. Interestingly, this patient has an infantile autism with cytogenetic abnormalities on chromosomal region 15q11-q13 as reported in patients with Autistic Disorder. |
| abstractGer |
We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluorescence in situ hybridization (FISH) enabled us to specify the diagnosis. Interestingly, this patient has an infantile autism with cytogenetic abnormalities on chromosomal region 15q11-q13 as reported in patients with Autistic Disorder. |
| abstract_unstemmed |
We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluorescence in situ hybridization (FISH) enabled us to specify the diagnosis. Interestingly, this patient has an infantile autism with cytogenetic abnormalities on chromosomal region 15q11-q13 as reported in patients with Autistic Disorder. |
| collection_details |
GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_95 GBV_ILN_110 GBV_ILN_161 GBV_ILN_165 GBV_ILN_170 GBV_ILN_206 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 |
| title_short |
Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder |
| url |
https://doi.org/10.1155/2007/61538 https://doaj.org/article/260bcf6d93354ca194369cf157c1be86 http://dx.doi.org/10.1155/2007/61538 https://doaj.org/toc/2314-6141 |
| remote_bool |
true |
| author2 |
Abdelhafid Natiq Philippe Jonveaux Abdelaziz Sefiani |
| author2Str |
Abdelhafid Natiq Philippe Jonveaux Abdelaziz Sefiani |
| ppnlink |
734738145 |
| mediatype_str_mv |
c |
| isOA_txt |
true |
| hochschulschrift_bool |
false |
| doi_str |
10.1155/2007/61538 |
| up_date |
2024-07-03T17:43:33.874Z |
| _version_ |
1803580723828883456 |
| fullrecord_marcxml |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ070970076</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230309095238.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230228s2007 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1155/2007/61538</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ070970076</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJ260bcf6d93354ca194369cf157c1be86</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Karim Ouldim</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2007</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluorescence in situ hybridization (FISH) enabled us to specify the diagnosis. Interestingly, this patient has an infantile autism with cytogenetic abnormalities on chromosomal region 15q11-q13 as reported in patients with Autistic Disorder.</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Medicine</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">R</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Abdelhafid Natiq</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Philippe Jonveaux</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Abdelaziz Sefiani</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">In</subfield><subfield code="t">BioMed Research International</subfield><subfield code="d">Hindawi Limited, 2013</subfield><subfield code="g">(2007)</subfield><subfield code="w">(DE-627)734738145</subfield><subfield code="w">(DE-600)2698540-8</subfield><subfield code="x">23146141</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">year:2007</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1155/2007/61538</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doaj.org/article/260bcf6d93354ca194369cf157c1be86</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">http://dx.doi.org/10.1155/2007/61538</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/2314-6141</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_DOAJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_20</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_22</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_23</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_24</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_31</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_40</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_60</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_62</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_65</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_69</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_73</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_95</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_110</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_161</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_165</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_170</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_206</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_285</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_293</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_602</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="j">2007</subfield></datafield></record></collection>
|
| score |
7.3972845 |