Literature DB >> 9600741

Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism.

M J Nowaczyk1, J A Ramsay, P Mohide, D J Tomkins.   

Abstract

Ring X chromosomes that do not undergo inactivation may cause malformations and mental retardation. We report on a fetus with anencephaly, total dorsal rachischisis, and diaphragmatic hernia that was found to have a mosaic 45,X/46,X,r(X)(p11.22q12) karyotype. Fluorescent in situ hybridization (FISH) confirmed that the ring chromosome was X-derived. This report expands the phenotypic spectrum of mosaic monosomy X and small ring X chromosomes.

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Year:  1998        PMID： 9600741

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  3 in total

1.  Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia.

Authors:  Kanwal Qidwai; David M Pearson; Gayle Simpson Patel; Barbara R Pober; Ladonna L Immken; Sau Wai Cheung; Daryl A Scott
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

2.  Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient.

Authors:  Danielle Veenma; Niels Beurskens; Hannie Douben; Bert Eussen; Petra Noomen; Lutgarde Govaerts; Els Grijseels; Maarten Lequin; Ronald de Krijger; Dick Tibboel; Annelies de Klein; Dian Van Opstal
Journal:  PLoS One       Date:  2010-12-21       Impact factor: 3.240

3.  A Novel 4-Gene Score to Predict Survival, Distant Metastasis and Response to Neoadjuvant Therapy in Breast Cancer.

Authors:  Masanori Oshi; Eriko Katsuta; Li Yan; John M L Ebos; Omar M Rashid; Ryusei Matsuyama; Itaru Endo; Kazuaki Takabe
Journal:  Cancers (Basel)       Date:  2020-05-02       Impact factor: 6.639
  3 in total

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