Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature. (Record no. 16113877)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01530 a2200433 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515015553.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200611s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1769-7212 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ejmg.2006.01.005 |
| 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 | Feenstra, I |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20061120 |
| 245 00 - TITLE STATEMENT | |
| Title | Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of medical genetics |
| Date of publication, distribution, etc. | |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 384-95 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Review |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Abnormalities, Multiple |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aneuploidy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 21 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 22 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Developmental Disabilities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Face |
| General subdivision | abnormalities |
| 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 | 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 | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Translocation, Genetic |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koolen, D A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van der Pas, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamel, B C J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mieloo, H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smeets, D F C M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van Ravenswaaij, C M A |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of medical genetics |
| Related parts | vol. 49 |
| -- | no. 5 |
| -- | p. 384-95 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ejmg.2006.01.005">https://doi.org/10.1016/j.ejmg.2006.01.005</a> |
| Public note | Available from publisher's website |
No items available.