Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting
- Nagasaki Univ. School of Medicine (Japan); and others
A molecular cytogenetic method consisting of chromosome microdissection and subsequent reverse/forward chromosome painting is a powerful tool to identify chromosome abnormalities of unknown origin. We present 4 cases of chromosome structural abnormalities whose origins were ascertained by this method. In one MCA/MR patient with an add(5q)chromosome, fluorescence in situ hybridization (FISH), using probes generated from a microdissected additional segment of the add(5q) chromosome and then from a distal region of normal chromosome 5, confirmed that the patient had a tandem duplication for a 5q35-qter segment. Similarly, we ascertained that an additional segment of an add(3p) chromosome in another MCA/MR patient had been derived from a 7q32-qter segment. In a woman with a history of successive spontaneous abortions and with a minute marker chromosome, painting using microdissected probes from the whole marker chromosome revealed that it was i(15)(p10) or psu dic(15;15)(q11;q11). Likewise, a marker observed in a fetus was a ring chromosome derived from the paracentromeric region of chromosome 19. We emphasize the value of the microdissection-based chromosome painting method in the identification of unknown chromosomes, especially for marker chromosomes. The method may contribute to a collection of data among patients with similar or identical chromosome abnormalities, which may lead to a better clinical syndrome delineation. 15 refs., 2 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 508399
- Journal Information:
- American Journal of Medical Genetics, Vol. 63, Issue 3; Other Information: PBD: 14 Jun 1996
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
DETECTION
HUMAN CHROMOSOMES
GENETIC MAPPING
PATIENTS
HEREDITARY DISEASES
DIAGNOSIS
ETIOLOGY
FLUORESCENCE
IN-SITU HYBRIDIZATION
PROBES
HUMAN CHROMOSOME 5
HUMAN CHROMOSOME 7
HUMAN CHROMOSOME 3
BIOLOGICAL MARKERS
HUMAN CHROMOSOME 19
RING CHROMOSOMES
DICENTRIC CHROMOSOMES