Literature DB >> 7576173

Dandy-Walker malformation in a fetus with pentasomy X (49,XXXXX) prenatally diagnosed by fluorescence in situ hybridization technique.

T D Myles1, L Burd, G Font, M M McCorquodale, D J McCorquodale.   

Abstract

We present the case of a pentasomy X (49,XXXXX) prenatally diagnosed. The fluorescent in situ hybridization technique assisted in making the diagnosis. The problems identified in this fetus include a Dandy-Walker malformation, hydrocephaly, ventricular septal defect, hypertelorism and polyhydramnios.

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Year:  1995        PMID： 7576173     DOI： 10.1159/000264254

Source DB:  PubMed          Journal:  Fetal Diagn Ther        ISSN： 1015-3837            Impact factor:   2.587


  4 in total

1.  A new case of prenatally diagnosed pentasomy x: review of the literature.

Authors:  Linda Maria Azzurra Pirollo; Leila Baghernajad Salehi; Simona Sarta; Marco Cassone; Maria Vittoria Capogna; Emilio Piccione; Giuseppe Novelli; Adalgisa Pietropolli
Journal:  Case Rep Obstet Gynecol       Date:  2015-01-29

2.  A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2.

Authors:  Sara Markholt; Jesper Graakjaer; Signe Bødker Thim; Bente Høst; Anne-Bine Skytte
Journal:  Clin Case Rep       Date:  2017-06-01

3.  Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis.

Authors:  Luigia De Falco; Teresa Suero; Giovanni Savarese; Pasquale Savarese; Raffaella Ruggiero; Antonella Di Carlo; Mariasole Bruno; Nadia Petrillo; Monica Ianniello; Ciro Scarpato; Camilla Sarli; Antonio Fico
Journal:  Diagnostics (Basel)       Date:  2022-06-29

4.  Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy.

Authors:  Lucia M Moraes; Leila Ca Cardoso; Vera Ls Moura; Miguel Am Moreira; Albert N Menezes; Juan C Llerena; Héctor N Seuánez
Journal:  Mol Cytogenet       Date:  2009-10-07       Impact factor: 2.009
  4 in total

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