Literature DB >> 21739595

A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region.

A L Mosca1, P Callier, L Faivre, N Laurent, T Rousseau, N Marle, M Payet, H Guy, S Couvreur, A Masurel-Paulet, P Sagot, C Thauvin-Robinet, F Mugneret.   

Abstract

Mesh：

Year:  2011        PMID： 21739595     DOI： 10.1002/ajmg.a.34105

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  2 in total

1.  Inverted duplication, triplication and quintuplication through sequential breakage-fusion-bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion.

Authors:  Hongyan Chai; Brittany Grommisch; Autumn DiAdamo; Jiadi Wen; Pei Hui; Peining Li
Journal:  Mol Genet Genomic Med       Date:  2019-09-02       Impact factor: 2.183

2.  A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5.

Authors:  Danijela Krgovic; Ana Blatnik; Ante Burmas; Andreja Zagorac; Nadja Kokalj Vokac
Journal:  BMC Med Genet       Date:  2014-02-11       Impact factor: 2.103
  2 in total

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