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การจำแนกการแลกเปลี่ยนชิน้ส่วนของโครโมโซมที่ไม่ชัดเจนในผู้ป่วยในกลุ่มอาการ microdeletion (Submicroscopic Identification of Chromosomal Rearrangement in Patients with Microdeletion Syndromes) |
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| รหัสดีโอไอ | |
| Creator | วรภา หีบจันทร์ตรี |
| Title | การจำแนกการแลกเปลี่ยนชิน้ส่วนของโครโมโซมที่ไม่ชัดเจนในผู้ป่วยในกลุ่มอาการ microdeletion (Submicroscopic Identification of Chromosomal Rearrangement in Patients with Microdeletion Syndromes) |
| Publisher | Genetics Society of Thailand |
| Publication Year | 2556 |
| Journal Title | Thai Journal of Genetics |
| Journal Vol. | S.1 |
| Journal No. | S1 (Special Issue 1) |
| Page no. | 409 |
| Keyword | cryptic/submicroscopic, chromosome rearrangement, microdeletion syndromes |
| ISSN | 8578664 |
| Abstract | The rearrangements between chromosome Y and 22, and chromosome 15 and 22 were observed by karyotyping of the patients with Velocardiofacial and Prader-Willi syndromes. The deletion of TUPLE1 and SNRPN genes that performed by Fluorescence in situ Hybridization were also detected. It can be concluded that the rearrangements were unbalance translocations. Therefore, the combination of karyotyping and molecular cytogenetic tests should be recommended to identify submicroscopic and/or on the karyotypes caused by unbalanced rearrangement. |
