Characterization of an unbalanced de novo rearrangement, initially by dinucleotide repeat polymorphism typing and subsequent confirmation by FISH
- Univ. of Tennessee, Memphis, TN (United States); and others
Unbalanced de novo rearrangements not amenable to characterization by conventional cytogenetics can be elucidated using molecular techniques. By microsatellite polymorphism typing, we initially determined the origin and composition of an unbalanced de novo translocation (46,XX,15q+) in a child with multiple congenital anomalies. Microsatellite polymorphism for D5S208 (localized to 5p15) and polymerase chain reaction (PCR) analysis showed that the extra segment originated from the short arm of chromosome 5. Amplification of patient`s DNA with primers for dinucleotide repeats D5S350 and D5S118 showed that most of the short arm of chromosome 5 was present in three copies. The PCR findings were then reconfirmed by a battery of fluorescence in situ hybridizations (FISH). FISH analyses were further helpful in accurately defining the precise trisomic region as well as elucidating the dicentric nature of 46,XX,-15,+der dic (15)t(5;15)(q11.1;p12) de novo translocation. This work demonstrates the benefit of microsatellite polymorphism typing for the identification and characterization of de novo unbalanced rearrangements and apparent tandem duplications in which conventional cytogenetic techniques are usually uninformative. Such study design in cytogenetically equivocal cases could undoubtedly aid in patient management, family counseling and benefit gene mapping studies through accurate genotype-phenotype correlation.
- OSTI ID:
- 133788
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0521
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
HUMAN CHROMOSOME 15
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
HUMAN CHROMOSOME 5
DETECTION
PATIENTS
CONGENITAL MALFORMATIONS
DNA HYBRIDIZATION
SENSITIVITY
GENOTYPE
CORRELATIONS
PHENOTYPE
DICENTRIC CHROMOSOMES
FLUORESCENCE
POLYMERASE CHAIN REACTION
BIOLOGICAL MARKERS