Literature DB >> 3261147

Ring chromosome 4 mosaicism and Potter sequence.

J P Fryns1, A Kleczkowska, J Jaeken, H Van den Berghe.   

Abstract

A 46,XY/46,XY,r(4) mosaicism is described in a malformed male newborn with bilateral renal agenesis. A review of the phenotypic findings in the previously reported ring chromosome 4 patients is made and the importance of the detection of chromosomal abnormalities towards the nosology of malformation sequences is discussed.

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Mesh：

Year:  1988        PMID： 3261147

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  3 in total

Review 1.  Etiology and management of early pregnancy renal anhydramnios: Is there a place for serial amnioinfusions?

Authors:  Angie C Jelin; Katelynn G Sagaser; Katherine R Forster; Tochi Ibekwe; Mary E Norton; Eric B Jelin
Journal:  Prenat Diagn       Date:  2020-02-19       Impact factor: 3.050

2.  Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.

Authors:  Daniela Concolino; Elena Rossi; Pietro Strisciuglio; Maria Antonietta Iembo; Roberto Giorda; Roberto Ciccone; Romano Tenconi; Orsetta Zuffardi
Journal:  J Med Genet       Date:  2007-10       Impact factor: 6.318

3.  Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review.

Authors:  César Paz-Y-Miño; Ana Proaño; Stella D Verdezoto; Juan Luis García; Jesús María Hernández-Rivas; Paola E Leone
Journal:  BMC Med Genomics       Date:  2019-11-21       Impact factor: 3.063
  3 in total

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