A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization

Human Genetics

Volumn 92, Issue 2, 1993, Pages 117-121

  Batista, Denise A S ^a,b   Tuck Muller, Cathy M ^c   Martinez, Jose E ^c   Kearns, William G ^a,d   Pearson, Peter L ^a   Stetten, Gail ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b SÃO PAULO STATE UNIVERSITY UNESP   (Brazil)

^c UNIVERSITY OF SOUTH ALABAMA   (United States)

^d KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; CYTOGENETICS; FEMALE; FETUS; FLUORESCENCE; HUMAN; IN SITU HYBRIDIZATION; INTERMETHOD COMPARISON; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADULT; AMNIOCENTESIS; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; FETAL DISEASES; FIBROBLASTS; HUMAN; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION (GENETICS); KARYOTYPING; PREGNANCY; PRENATAL DIAGNOSIS; SUPPORT, NON-U.S. GOV'T; TELOMERE; TRANSLOCATION (GENETICS);

EID: 0027202605     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/BF00219677     Document Type: Article

References (28)

1. Complex structural rearrangement of chromosomes 7, 10, 14 and 21
2. Differential binding of alkylating fluorochromes in human chromosomes
3. A pericentric inversion, 5p-q+, and additional complex rearrangements in a case of cridu chat syndrome
4. A three chromosome translocation involving two homologous chromosomes in a trisomic abortus
5. Major karyotypic abnormality in a child born to a woman with untreated malignant melanoma
6. Complex chromosomal rearrangement in a mentally retarded boy without gross dysmorphic stigmata
7. A simple method of reducing the fading of immunofluorescence during microscopy
8. Prenatal diagnosis of a de novo complex chromosomal rearrangement involving four chromosomes
9. Chromosomal in situ suppression hybridization after Giemsa banding
10. Complex chromosome rearrangements and congenital anomalies
11. Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries
12. Molecular evidence of telomere sequences present at the broken ends of terminal rearranged chromosomes
13. Resolution of breakpoints in a complex rearrangement by use of multiple staining techniques: confirmation of suspected 12p12.3 intra band deletion by dosage effects of LDHB
14. Y autosome translocation and complex chromosome rearrangement in cridu chat syndrome
15. A complex chromosomal rearrangement and congenital anomalies in the progeny of a mother treated for child hood leukemia
16. Recognition of a chromosome truncation site associated with α-thalassaemia by human telomerase
17. Two chromosome aberrations in the child of a woman with systemic lupus erythematosus treated with azathioprine and prednisone
18. Complex chromosome rearrangements
19. The presence of interstitial telomeric sequences in constitutional chromosome abnormalities
20. Cytogenetic analysis using quantitative, high sensitive, fluorescence in situ hybridization
21. Fluorescence in situ hybridization with human chromosome specific libraries: detection of trisomy 21 and translocations of chromosome 4
22. Detection of chromosomal rearrangements by fluorescence in situ hybridization
23. A rapid banding technique for human chromosomes
24. Prenatal diagnosis and postnatal follow up of an abnormal child with two de novo apparently balanced translocations
25. A simple technique for demonstrating centromeric heterochromatin
26. A complex chromosome rearrangement with 10 break points: tentative assignment of the locus for Williams syndrome to 4q33→q35.1
27. De novo translocation heterozygote with three reciprocal translocations
28. A truncated human chromosome 16 associated with α-thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n