Supernumerary marker chromosomes 5: Confirmation of a critical region and resultant phenotype

American Journal of Medical Genetics

Volumn 111, Issue 1, 2002, Pages 19-26

  Sizonenko, Loredana D'Amato ^a   Ng, Daniel ^a   Oei, Paul ^a   Winship, Ingrid ^a,b  

^a AUCKLAND DISTRICT HEALTH BOARD   (New Zealand)

^b Northern Regional Genetics Service   (New Zealand)

Author keywords

Chromosome 5; In situ hybdridization; Marker chromosome; Partial trisomy 5p; Phenotypegenotype correlation; Ring marker chromosome; Supernumerary marker chromosome

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 5P; CHROMOSOME DUPLICATION; DISEASE SEVERITY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IN SITU HYBRIDIZATION; INFANT; MALE; MARKER CHROMOSOME; MOSAICISM; PARTIAL TRISOMY; PHENOTYPE; POLYNESIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RING CHROMOSOME; SUPERNUMERARY CHROMOSOME; CHROMOSOME 5; CHROMOSOME BANDING PATTERN; CHROMOSOME DISORDER; CLUBFOOT; CONGENITAL MALFORMATION; FACE; FATALITY; GENETICS; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PATHOLOGY; REVIEW; TRISOMY;

ABNORMALITIES, MULTIPLE; CASE REPORT; CHROMOSOME BANDING; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 5; CLUBFOOT; FACE; FATAL OUTCOME; FEMALE; HUMAN; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; MENTAL RETARDATION; MOSAICISM; PHENOTYPE; RING CHROMOSOMES; SUPPORT, NON-U.S. GOV'T; TRISOMY; HUMANS;

EID: 0037158282     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10459     Document Type: Article

References (26)

1. Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy
2. Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome
3. Complete 5p trisomy: 1 case and 19 translocation carriers in 6 generations
4. A clinical syndrome associated with dup(5p)
5. Genetics of club foot in Maori and Pacific people
6. A case report of a de novo tandem duplication (5p)(p14-pter)
7. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15. II. Review of the literature
8. Synchronization of human leukemic cells: Relevance for high resolution chromosome banding
9. Familial partial trisomy 5p resulting from segregation of an insertional translocation
10. Prenatal detection of extra structurally abnormal chromosomes (ESACs): New cases and a review of the literature
11. Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5) (p13.1-p15.3)
12. Ségrégation familiale d'une translocation 5-13 determinant une monosomie et une trisomie partielles du bras court du chromosome 5: Maladie de cri du chat et sa réciproque
13. Proximal partial 5p trisomy resulting from a maternal (19;5) insertion
14. Supernumerary ring chromosome 5 identified by FISH
15. De novo complete trisomy 5p: Clinical report and FISH studies
16. Pure partial trisomy of the short arm of chromosome 5
17. A rapid banding technique for human chromosomes
18. Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH
19. A simple technique for demonstrating centromeric heterochromatin
20. Delineation of supernumerary marker chromosomes in 38 patients
21. Trisomy 5p: A second case occurring in a previously described kindred
22. Partial trisomy-5p
23. Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes
24. Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization