| dc.contributor.author | Berry, AC | |
| dc.contributor.author | Elcioglu, N | |
| dc.contributor.author | Fear, C | |
| dc.date.accessioned | 2021-03-03T13:33:50Z | |
| dc.date.available | 2021-03-03T13:33:50Z | |
| dc.date.issued | 1997 | |
| dc.identifier.citation | Elcioglu N., Fear C., Berry A., "Partial trisomy of 15q due to inserted inverted duplication", CLINICAL GENETICS, cilt.52, sa.6, ss.442-445, 1997 | |
| dc.identifier.issn | 0009-9163 | |
| dc.identifier.other | av_34c22006-b188-4279-a80a-1435c88cdfc4 | |
| dc.identifier.other | vv_1032021 | |
| dc.identifier.uri | http://hdl.handle.net/20.500.12627/39669 | |
| dc.description.abstract | A de novo abnormal chromosome 15, with an inverted duplication of the segment (15q13.3-->15q21.3) at 15q24.3, was found in a boy with mild developmental delay, facial dysmorphism, Marfan-like appearance and severe language delay. There is an unusual disparity between the severe lack of speech and the presence of reasonable skills in other areas. | |
| dc.language.iso | eng | |
| dc.subject | Tıbbi Genetik | |
| dc.subject | GENETİK VE HAYAT | |
| dc.subject | Moleküler Biyoloji ve Genetik | |
| dc.subject | Yaşam Bilimleri (LIFE) | |
| dc.subject | Tıp | |
| dc.subject | Sağlık Bilimleri | |
| dc.subject | Dahili Tıp Bilimleri | |
| dc.subject | Yaşam Bilimleri | |
| dc.subject | Moleküler Biyoloji ve Genetik | |
| dc.subject | Temel Bilimler | |
| dc.title | Partial trisomy of 15q due to inserted inverted duplication | |
| dc.type | Makale | |
| dc.relation.journal | CLINICAL GENETICS | |
| dc.contributor.department | , , | |
| dc.identifier.volume | 52 | |
| dc.identifier.issue | 6 | |
| dc.identifier.startpage | 442 | |
| dc.identifier.endpage | 445 | |
| dc.contributor.firstauthorID | 119956 | |
