Literature DB >> 8284294

On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome.

G Martini1, G Carillo, F Catizone, A Notarangelo, R Mingarelli, B Dallapiccola.   

Abstract

A 49,XXXXX fetus was detected in amniotic fluid cell cultures from a 39-year-old mother. On ultrasonography, growth retardation and bilateral radioulnar synostosis were found. Additional clinical manifestations were mild facial anomalies and hypoplastic ovaries depleted of oocytes. Molecular analysis showed that this aneuploidy arose by successive maternal non-disjunction.

Entities:  

Mesh：

Year:  1993        PMID： 8284294     DOI： 10.1002/pd.1970130811

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


  5 in total

1.  Double non-disjunction in maternal meiosis II giving rise to a fetus with 48,XXX,+21.

Authors:  V M Park; R R Bravo; L P Shulman
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

2.  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

3.  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

4.  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

5.  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
  5 in total

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