A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region. (Record no. 9313187)
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000 -LEADER | |
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fixed length control field | 01482 a2200457 4500 |
005 - DATE AND TIME OF LATEST TRANSACTION | |
control field | 20250513130301.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 199711s 0 0 eng d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
International Standard Serial Number | 0340-6717 |
024 7# - OTHER STANDARD IDENTIFIER | |
Standard number or code | 10.1007/s004390050571 |
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 | Bartsch, O |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 19971119 |
245 00 - TITLE STATEMENT | |
Title | A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | Human genetics |
Date of publication, distribution, etc. | Oct 1997 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 669-75 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 | Adult |
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 | Chromosome Deletion |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Chromosomes, Human, Pair 18 |
General subdivision | genetics |
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 | Down Syndrome |
General subdivision | genetics |
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 | Infant |
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 | Pedigree |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Telomere |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Translocation, Genetic |
General subdivision | genetics |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Hinkel, G K |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Petersen, M B |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | König, U |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bugge, M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Mikkelsen, M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Avramopoulos, D |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Morris, M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Antonarakis, S E |
773 0# - HOST ITEM ENTRY | |
Title | Human genetics |
Related parts | vol. 100 |
-- | no. 5-6 |
-- | p. 669-75 |
856 40 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://doi.org/10.1007/s004390050571">https://doi.org/10.1007/s004390050571</a> |
Public note | Available from publisher's website |
No items available.