Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

American Journal of Human Genetics

Volumn 71, Issue 2, 2002, Pages 276-285

  Giglio, Sabrina ^a   Calvari, Vladimiro ^a   Gregato, Giuliana ^a   Gimelli, Giorgio ^b   Camanini, Silvia ^a   Giorda, Roberto ^c   Ragusa, Angela ^d   Guerneri, Silvana ^e   Selicorni, Angelo ^f   Stumm, Marcus ^g   Tonnies, Holger ^h   Ventura, Mario ⁱ   Zollino, Marcella ^j   Neri, Giovanni ^j   Barber, John ^k   Wieczorek, Dagmar ^l   Rocchi, Mariano ⁱ   Zuffardi, Orsetta ^a,m  

^a UNIVERSITY OF PAVIA   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c Istituto di Ricerca e Cura A Carattere Scientifico Eugenio Medea   (Italy)

^d OASI RESEARCH INSTITUTE IRCCS   (Italy)

^e PARKINSON INSTITUTE   (Italy)

^f UNIVERSITY OF MILAN   (Italy)

^g OTTO VON GUERICKE UNIVERSITY   (Germany)

^h HUMBOLDT UNIVERSITY   (Germany)

ⁱ Dipto di Anat Patologica e Genet   (Italy)

^j CATHOLIC UNIVERSITY   (Italy)

^k SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^l UNIVERSITY HOSPITAL ESSEN   (Germany)

^m FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CHROMOSOME BREAKAGE; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CLUSTER; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN GENOME; OLFACTORY RECEPTOR; PRIORITY JOURNAL; RECEPTOR GENE; WOLF HIRSCHHORN SYNDROME;

BACTERIA (MICROORGANISMS); CANIS;

EID: 0036071427     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/341610     Document Type: Article

References (22)

1. Segmental duplications: Organization and impact within the current human genome project assembly
2. Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome
3. Human paralogues of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms
4. Recent duplication, domain accretion and the dynamic mutation of the human genome
5. Segmental duplications: An "expanding" role in genomic instability and disease
6. The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications
7. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
8. Structure of chromosomal duplicons and their role in mediating human genomic disorders
9. A selective difference between human Y-chromosomal DNA haplotypes
10. Positive selection of a gene family during the emergence of humans and African apes
11. Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism
12. Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint
13. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
14. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
15. Segmental duplications and the evolution of the primate genome
16. Characterization of the NPHP1 locus: Mutational mechanism involved in deletions in familial juvenile nephronophthisis
17. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats
18. Genome architecture, rearrangements and genomic disorders
19. Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH
20. Clinical and cytogenetic studies in a large (4;8) translocation family with pre- and postnatal Wolf syndrome
21. Epigenetic analysis of kinetochore assembly on variant human centromeres
22. Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)