Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11. (Record no. 27001909)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01629 a2200469 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517144315.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201710s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1552-4833 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.a.38098 |
| 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 | Kekis, Mariana |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20171030 |
| 245 00 - TITLE STATEMENT | |
| Title | Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Apr 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1056-1060 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Abnormalities, Multiple |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 11 |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Craniofacial Abnormalities |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Dosage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | In Situ Hybridization, Fluorescence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intellectual Disability |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Karyotyping |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microarray Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oligonucleotide Array Sequence Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prognathism |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tetrasomy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deeg, Carol |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hashimoto, Sayaka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McKinney, Aimee |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Erdman, Linda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Green-Geer, Cecelia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shuss, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hickey, Scott |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Astbury, Caroline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pyatt, Robert E |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 173 |
| -- | no. 4 |
| -- | p. 1056-1060 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.38098">https://doi.org/10.1002/ajmg.a.38098</a> |
| Public note | Available from publisher's website |
No items available.