Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality
Abstract
The authors report on a case of ring chromosome 5 in a 36-month-old girl with severe growth retardation, clinodactyly, mild psychological abnormalities, and normal facial appearance. Endocrine tests showed partial growth hormone deficiency. Cytogenetic investigation failed to demonstrate any apparent microscopic deletion of either the short or long arm of chromosome 5 as a consequence of ring formation. In 12% of cells examined, the ring was either absent or present in multiple copies. Only 3 previous cases of ring chromosome 5 have been reported in association with short stature of prenatal onset and minor anomalies, without mental retardation. 12 refs., 3 figs.
- Authors:
-
- Ospedale Salesi, Ancona (Italy)
- Ospedale S. Lucia, Recanati (Italy)
- Publication Date:
- Sponsoring Org.:
- USDOE
- OSTI Identifier:
- 86479
- Resource Type:
- Journal Article
- Journal Name:
- American Journal of Medical Genetics
- Additional Journal Information:
- Journal Volume: 49; Journal Issue: 1; Other Information: PBD: 1 Jan 1994
- Country of Publication:
- United States
- Language:
- English
- Subject:
- 55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 5; CHROMOSOMAL ABERRATIONS; ANIMAL GROWTH; INHIBITION; MENTAL DISORDERS
Citation Formats
Migliori, M V, Pettinari, A, Cherubini, V, Bartolotta, E, and Pecora, R. Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality. United States: N. p., 1994.
Web. doi:10.1002/ajmg.1320490121.
Migliori, M V, Pettinari, A, Cherubini, V, Bartolotta, E, & Pecora, R. Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality. United States. https://doi.org/10.1002/ajmg.1320490121
Migliori, M V, Pettinari, A, Cherubini, V, Bartolotta, E, and Pecora, R. 1994.
"Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality". United States. https://doi.org/10.1002/ajmg.1320490121.
@article{osti_86479,
title = {Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality},
author = {Migliori, M V and Pettinari, A and Cherubini, V and Bartolotta, E and Pecora, R},
abstractNote = {The authors report on a case of ring chromosome 5 in a 36-month-old girl with severe growth retardation, clinodactyly, mild psychological abnormalities, and normal facial appearance. Endocrine tests showed partial growth hormone deficiency. Cytogenetic investigation failed to demonstrate any apparent microscopic deletion of either the short or long arm of chromosome 5 as a consequence of ring formation. In 12% of cells examined, the ring was either absent or present in multiple copies. Only 3 previous cases of ring chromosome 5 have been reported in association with short stature of prenatal onset and minor anomalies, without mental retardation. 12 refs., 3 figs.},
doi = {10.1002/ajmg.1320490121},
url = {https://www.osti.gov/biblio/86479},
journal = {American Journal of Medical Genetics},
number = 1,
volume = 49,
place = {United States},
year = {Sat Jan 01 00:00:00 EST 1994},
month = {Sat Jan 01 00:00:00 EST 1994}
}
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