Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development. (Record no. 25712658)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01011 a2200265 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517080424.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201602s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1755-8166 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1186/s13039-016-0220-5 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Jespersgaard, Cathrine |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160209 |
| 245 00 - TITLE STATEMENT | |
| Title | Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular cytogenetics |
| Date of publication, distribution, etc. | 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 11 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Damgaard, Ida N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cornelius, Nanna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bache, Iben |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Knabe, Niels |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Miranda, Maria J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tümer, Zeynep |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular cytogenetics |
| Related parts | vol. 9 |
| -- | p. 11 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/s13039-016-0220-5">https://doi.org/10.1186/s13039-016-0220-5</a> |
| Public note | Available from publisher's website |
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