Partial trisomy 13q identified by sequential fluorescence in situ hybridization

Journal Article · Mon Jul 31 04:00:00 EDT 1995 · American Journal of Medical Genetics

OSTI ID:441153

Gopal Rao, V V.N.; Carpenter, N J; Gucsavas, M ^[1]

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1. Institute of Medical Genetics, Tulsa, OK (United States); and others

We report on a 19-month-old boy with partial trisomy 13q resulting from a probable balanced translocation involving chromosomes 1 and 13. The infant presented with omphalocele, malrotation, microcephaly with overriding skull bones, micrognathia, apparently low-set ears, rocker-bottom feet, and congenital heart disease, findings suggestive of trisomy 13. Karyotypic studies from peripheral blood lymphocytes documented an unbalanced karyotype 46,XY,-1,+der. The mother`s chromosomes were normal, and the father was not available. Conventional cytogenetic techniques were unable to identify the extra material on the terminal 1q. Using fluorescence in situ hybridization (FISH) on the GTL-banded metaphases, the extra material on 1q was identified as the terminal long arm of 13, thus resulting in partial trisomy 13 (q32-qter). 8 refs., 2 figs., 1 tab.

• OSTI ID: 441153
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 1 Vol. 58; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CARDIOVASCULAR DISEASES
CHROMOSOMAL ABERRATIONS
CONGENITAL DISEASES
CONGENITAL MALFORMATIONS
DNA HYBRIDIZATION
FLUORESCENCE
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 1
HUMAN CHROMOSOME 13
KARYOTYPE
PATIENTS
PHENOTYPE