238 related articles for article (PubMed ID: 11039583)
1. Inv dup(22), del(22)(q11) and r(22) in the father of a child with DiGeorge syndrome.
Bergman A; Blennow E
Eur J Hum Genet; 2000 Oct; 8(10):801-4. PubMed ID: 11039583
[TBL] [Abstract][Full Text] [Related]
2. Telomere capture as a frequent mechanism for stabilization of the terminal chromosomal deletion associated with inverted duplication.
Yu S; Graf WD
Cytogenet Genome Res; 2010; 129(4):265-74. PubMed ID: 20606397
[TBL] [Abstract][Full Text] [Related]
3. Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p.
Schlade-Bartusiak K; Tucker T; Safavi H; Livingston J; van Allen MI; Eydoux P; Armstrong L
Eur J Med Genet; 2013 May; 56(5):229-35. PubMed ID: 23416622
[TBL] [Abstract][Full Text] [Related]
4. Fluorescence in situ hybridization and single nucleotide polymorphism of a new case with inv dup del(8p).
Caglayan AO; Engelen JJ; Ghesquiere S; Alofs M; Saatci C; Dundar M
Genet Couns; 2009; 20(4):333-40. PubMed ID: 20162868
[TBL] [Abstract][Full Text] [Related]
5. Deletion of 22q11 in two brothers with different phenotype.
Kasprzak L; Der Kaloustian VM; Elliott AM; Shevell M; Lejtenyi C; Eydoux P
Am J Med Genet; 1998 Jan; 75(3):288-91. PubMed ID: 9475599
[TBL] [Abstract][Full Text] [Related]
6. Inv dup del(10q): identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements.
Chen CP; Chen M; Su YN; Huang JP; Ma GC; Chang SP; Chern SR; Chen YT; Su JW; Lee CC; Town DD; Wang W
Taiwan J Obstet Gynecol; 2012 Jun; 51(2):245-52. PubMed ID: 22795102
[TBL] [Abstract][Full Text] [Related]
7. Inherited t(9;22) as the cause of DiGeorge syndrome: a case report.
Shuib S; Abdul Latif Z; Abidin NZ; Akmal SN; Zakaria Z
Malays J Pathol; 2009 Dec; 31(2):133-6. PubMed ID: 20514857
[TBL] [Abstract][Full Text] [Related]
8. Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13.
Spinner NB; Zackai E; Cheng SD; Knoll JH
Am J Med Genet; 1995 May; 57(1):61-5. PubMed ID: 7645601
[TBL] [Abstract][Full Text] [Related]
9. Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis.
Soler A; Sánchez A; Carrió A; Badenas C; Milà M; Borrell A
Prenat Diagn; 2003 Apr; 23(4):319-22. PubMed ID: 12673638
[TBL] [Abstract][Full Text] [Related]
10. Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome.
Vermeulen SJ; Speleman F; Vanransbeeck L; Verspeet J; Menten B; Verschraegen-Spae MR; Wilde PD; Messiaen L; Michaelis RC; Leroy JG
Eur J Hum Genet; 2005 Jan; 13(1):52-8. PubMed ID: 15470365
[TBL] [Abstract][Full Text] [Related]
11. Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
Chabchoub E; Rodríguez L; Galán E; Mansilla E; Martínez-Fernandez ML; Martínez-Frías ML; Fryns JP; Vermeesch JR
J Med Genet; 2007 Apr; 44(4):250-6. PubMed ID: 17172463
[TBL] [Abstract][Full Text] [Related]
12. Inv dup del(9p): prenatal diagnosis and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization.
Chen CP; Su YN; Chern SR; Hsu CY; Tsai FJ; Wu PC; Lee CC; Chen YT; Lee MS; Wang W
Taiwan J Obstet Gynecol; 2011 Mar; 50(1):67-73. PubMed ID: 21482378
[TBL] [Abstract][Full Text] [Related]
13. Concurrent microdeletion and duplication of 22q11.2.
Blennow E; Lagerstedt K; Malmgren H; Sahlén S; Schoumans J; Anderlid B
Clin Genet; 2008 Jul; 74(1):61-7. PubMed ID: 18445048
[TBL] [Abstract][Full Text] [Related]
14. Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.
Rossi E; Riegel M; Messa J; Gimelli S; Maraschio P; Ciccone R; Stroppi M; Riva P; Perrotta CS; Mattina T; Memo L; Baumer A; Kucinskas V; Castellan C; Schinzel A; Zuffardi O
J Med Genet; 2008 Mar; 45(3):147-54. PubMed ID: 18006671
[TBL] [Abstract][Full Text] [Related]
15. Prenatal detection and characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 22 with apparently normal phenotype.
Lin CC; Hsieh YY; Wang CH; Li YC; Hsieh LJ; Lee CC; Tsai CH; Tsai FJ
Prenat Diagn; 2006 Oct; 26(10):898-902. PubMed ID: 16915592
[TBL] [Abstract][Full Text] [Related]
16. Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome.
Dempsey MA; Schwartz S; Waggoner DJ
Am J Med Genet A; 2007 May; 143A(10):1082-6. PubMed ID: 17431914
[TBL] [Abstract][Full Text] [Related]
17. Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization.
Guo WJ; Callif-Daley F; Zapata MC; Miller ME
Am J Med Genet; 1995 Sep; 58(3):230-6. PubMed ID: 8533823
[TBL] [Abstract][Full Text] [Related]
18. Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay.
Pedurupillay CR; Misceo D; Gamage TH; Dissanayake VH; Frengen E
Gene; 2014 Jan; 533(1):403-10. PubMed ID: 24095780
[TBL] [Abstract][Full Text] [Related]
19. Inverted duplications: how many of them are mosaic?
Pramparo T; Giglio S; Gregato G; de Gregori M; Patricelli MG; Ciccone R; Scappaticci S; Mannino G; Lombardi C; Pirola B; Giorda R; Rocchi M; Zuffardi O
Eur J Hum Genet; 2004 Sep; 12(9):713-7. PubMed ID: 15266302
[TBL] [Abstract][Full Text] [Related]
20. Unusual 8p inverted duplication deletion with telomere capture from 8q.
Buysse K; Antonacci F; Callewaert B; Loeys B; Fränkel U; Siu V; Mortier G; Speleman F; Menten B
Eur J Med Genet; 2009; 52(1):31-6. PubMed ID: 19041960
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
