PubMed

Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres.

Daniel A, St Heaps L, Sylvester D, Diaz S, Peters G.

Cell Chromosome. 2008 Mar 10;7:1.PMID: 18331649 [PubMed - in process]Related articlesFree article

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.PMID: 15266302 [PubMed - indexed for MEDLINE]Related articlesFree article

Inverted duplications deletions: underdiagnosed rearrangements??

Zuffardi O, Bonaglia M, Ciccone R, Giorda R.

Clin Genet. 2009 Jun;75(6):505-13. Review.PMID: 19508415 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2006 Dec 15.PMID: 17172463 [PubMed - indexed for MEDLINE]Related articles

Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4.

Cotter PD, Kaffe S, Li L, Gershin IF, Hirschhorn K.

Am J Med Genet. 2001 Jul 22;102(1):76-80.PMID: 11471177 [PubMed - indexed for MEDLINE]Related articles

Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome.

Kondoh Y, Toma T, Ohashi H, Harada N, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N.

Am J Med Genet A. 2003 Jul 1;120A(1):123-6.PMID: 12794704 [PubMed - indexed for MEDLINE]Related articles

Submicroscopic terminal deletion of 1p36.3 and Xp23 hidden in complex chromosome rearrangements: independent mechanism of telomere restitution on the two chromatids.

Reddy KS, Yang X.

Am J Med Genet A. 2003 Mar 15;117A(3):261-7. Review.PMID: 12599190 [PubMed - indexed for MEDLINE]Related articles

Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.

Beaujard MP, Jouannic JM, Bessières B, Borie C, Martin-Luis I, Fallet-Bianco C, Portnoï MF.

Prenat Diagn. 2005 Jun;25(6):451-5.PMID: 15966060 [PubMed - indexed for MEDLINE]Related articles

Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome.

Paskulin GA, Riegel M, Cotter PD, Kiss A, Rosa RF, Zen PR, Mombach R, Graziadio C.

Am J Med Genet A. 2009 Jun;149A(6):1302-7.PMID: 19449429 [PubMed - indexed for MEDLINE]Related articles

Molecular characterization of inv dup del(8p): analysis of five cases.

Shimokawa O, Kurosawa K, Ida T, Harada N, Kondoh T, Miyake N, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N.

Am J Med Genet A. 2004 Jul 15;128A(2):133-7.PMID: 15214003 [PubMed - indexed for MEDLINE]Related articles

Characterization of an analphoid, neocentromere-positive inv dup 8p marker chromosome using multiplex whole chromosome and sub-telomere FISH analyses.

Velinov M, Gu H, Genovese M, Duncan C, Warburton P, Brooks SS, Jenkins EC.

Ann Genet. 2004 Apr-Jun;47(2):199-205.PMID: 15183754 [PubMed - indexed for MEDLINE]Related articles

Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.

Carreira IM, Melo JB, Rodrigues C, Backx L, Vermeesch J, Weise A, Kosyakova N, Oliveira G, Matoso E.

Mol Cytogenet. 2009 Aug 4;2:16.PMID: 19653912 [PubMed - in process]Related articlesFree article

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

Bonaglia MC, Giorda R, Massagli A, Galluzzi R, Ciccone R, Zuffardi O.

Eur J Hum Genet. 2009 Feb;17(2):179-86. Epub 2008 Sep 24.PMID: 18813332 [PubMed - indexed for MEDLINE]Related articlesFree article

Characterization of terminal chromosome anomalies using multisubtelomere FISH.

Davies AF, Kirby TL, Docherty Z, Ogilvie CM.

Am J Med Genet A. 2003 Aug 1;120A(4):483-9.PMID: 12884426 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2007 Nov 15.PMID: 18006671 [PubMed - indexed for MEDLINE]Related articlesFree article

The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.

Floridia G, Piantanida M, Minelli A, Dellavecchia C, Bonaglia C, Rossi E, Gimelli G, Croci G, Franchi F, Gilgenkrantz S, Grammatico P, Dalprá L, Wood S, Danesino C, Zuffardi O.

Am J Hum Genet. 1996 Apr;58(4):785-96.PMID: 8644743 [PubMed - indexed for MEDLINE]Related articlesFree article

Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: a cause of minute terminal chromosomal imbalances.

Daniel A, Baker E, Chia N, Haan E, Malafiej P, Hinton L, Clarke N, Adès L, Darmanian A, Callen D.

Am J Med Genet A. 2003 Feb 15;117A(1):57-64. Review.PMID: 12548741 [PubMed - indexed for MEDLINE]Related articles

Supernumerary microchromosomes identified as inverted duplications of chromosome 15: a report of three cases.

Wisniewski LP, Doherty RA.

Hum Genet. 1985;69(2):161-3.PMID: 3972417 [PubMed - indexed for MEDLINE]Related articles

A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage.

Morrissette JJ, Medne L, Bentley T, Owens NL, Geiger E, Pipan M, Zackai EH, Shaikh T, Spinner NB.

Am J Med Genet A. 2005 Aug 30;137(2):208-12.PMID: 16082706 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 11039583 [PubMed - indexed for MEDLINE]Related articlesFree article