Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization. (Record no. 21186191)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02179 a2200589 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516055541.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201202s 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.34168 |
| 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 | Freitas, Érika L |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120209 |
| 245 00 - TITLE STATEMENT | |
| Title | Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Nov 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2754-61 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Abnormal Karyotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 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 | Chromosome Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Mapping |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 20 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 9 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Comparative Genomic Hybridization |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Copy Number Variations |
| 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 | Forkhead Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genome, Human |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Guanine Nucleotide Exchange Factors |
| General subdivision | genetics |
| 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 | Inheritance Patterns |
| 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 | Metaphase |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Physical Examination |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Trisomy |
| General subdivision | diagnosis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gribble, Susan M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Simioni, Milena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vieira, Társis P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Silva-Grecco, Roseane L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Balarin, Marly A S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prigmore, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krepischi-Santos, Ana C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rosenberg, Carla |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Szuhai, Karoly |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Haeringen, Arie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carter, Nigel P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gil-da-Silva-Lopes, Vera Lúcia |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 155A |
| -- | no. 11 |
| -- | p. 2754-61 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.34168">https://doi.org/10.1002/ajmg.a.34168</a> |
| Public note | Available from publisher's website |
No items available.