Bibliographic Citation
| Document | For copies of Journal Articles, please contact the Publisher or your local public or university library and refer to the information in the Resource Relation field. For copies of other documents, please see the Availability, Publisher, Research Organization, Resource Relation and/or Author (affiliation information) fields and/or Document Availability. |
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| Title | Deletion (2)(q37) |
| Creator/Author | Stratton, R.F. ; Tolworthy, J.A. ; Young, R.S. [South Texas Genetics Center, San Antonio, TX (United States)] |
| Publication Date | 1994 Jun 01 |
| OSTI Identifier | OSTI ID: 67943 |
| Other Number(s) | AJMGDA; ISSN 0148-7299 |
| Resource Type | Journal Article |
| Resource Relation | American Journal of Medical Genetics ; VOL. 51 ; ISSUE: 2 ; PBD: 1 Jun 1994 |
| Subject | 55 BIOLOGY AND MEDICINE, BASIC STUDIES ; HUMAN CHROMOSOME 2; CHROMOSOMAL ABERRATIONS; GENETIC MAPPING; AORTA; MALFORMATIONS; HEREDITARY DISEASES; KARYOTYPE |
| Description/Abstract | We report on a 5-month-old girl with widely spaced nipples, redundant nuchal skin, coarctation of the aorta, anal atresia with distal fistula, postnatal growth retardation, hypotonia, and sparse scalp hair. Initial clinical assessment suggested the diagnosis of Ullrich-Turner syndrome. Chromosome analysis showed a 46,XX,del(2)(q37) karyotype in peripheral lymphocytes. We compare her findings to those of other reported patients with terminal deletions of 2q. 8 refs., 2 figs., 1 tab. |
| Country of Publication | United States |
| Language | English |
| Format | pp. 153-155 ; PL: |
| System Entry Date | 2001 May 03 |
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Last Updated: 02/08/2009