Literature DB >> 2148373

Fetal gastroschisis associated with monosomy 22 mosaicism and absent cerebral diastolic flow.

R M Lewinsky1, J M Johnson, T T Lao, E J Winsor, H Cohen.   

Abstract

A case of fetal gastroschisis associated with 45,XY,-22/46,XY mosaicism and absent cerebral diastolic flow is described. This is the third case reported of monosomy 22 mosaicism, and the first one to be diagnosed antenatally.

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Year:  1990        PMID: 2148373     DOI: 10.1002/pd.1970100909

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


  4 in total

Review 1.  A clinical-pathogenetic approach on associated anomalies and chromosomal defects supports novel candidate critical regions and genes for gastroschisis.

Authors:  Victor M Salinas-Torres; Rafael A Salinas-Torres; Ricardo M Cerda-Flores; Hugo L Gallardo-Blanco; Laura E Martínez-de-Villarreal
Journal:  Pediatr Surg Int       Date:  2018-08-09       Impact factor: 1.827

2.  Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.

Authors:  Anna A Kashevarova; Elena O Belyaeva; Aleksandr M Nikonov; Olga V Plotnikova; Nikolay A Skryabin; Tatyana V Nikitina; Stanislav A Vasilyev; Yulia S Yakovleva; Nadezda P Babushkina; Ekaterina N Tolmacheva; Mariya E Lopatkina; Renata R Savchenko; Lyudmila P Nazarenko; Igor N Lebedev
Journal:  Mol Cytogenet       Date:  2018-04-27       Impact factor: 2.009

3.  Phelan-McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses.

Authors:  Liang Chen; Zhi-Ye Yao; Xiangtao Wu; Shao-Ru He; Yu-Mei Liu; Xue-Yan Wang; De-Zhi Cao; Xing-Kun Yang; Jian-Bo Zhao; Zi Ren; Hong Li; Zheng Pei; Hong-Ke Ding; Zhi-Chun Feng
Journal:  Front Pediatr       Date:  2022-08-23       Impact factor: 3.569

4.  Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases.

Authors:  Ashutosh Halder; Manish Jain; Madhulika Kabra; Neerja Gupta
Journal:  Mol Cytogenet       Date:  2008-08-10       Impact factor: 2.009

  4 in total

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