Literature DB >> 15614895

Inherited cryptic chromosomal aberrations may be more easily detected in their balanced forms: a case report with hidden der(1)t(1;17)(q44;p13.2).

Thomas Liehr, Anita Heller, Karl-Heinz Eichhorn, Volkmar Beensen, Eberhart Schulze, Heike Starke, Uwe Claussen, Isolde Schreyer.   

Abstract

Mesh：

Year:  2004        PMID： 15614895     DOI： 10.1002/pd.971

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


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  3 in total

1.  Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy.

Authors:  Emmanouil Manolakos; Catherine Sarri; Annalisa Vetro; Konstantinos Kefalas; Eleni Leze; Christalena Sofocleus; George Kitsos; Konstantina Merou; Haris Kokotas; Anna Papadopoulou; Achilleas Attilakos; Michael B Petersen; Sofia Kitsiou-Tzeli
Journal:  Mol Cytogenet       Date:  2011-02-23       Impact factor: 2.009

2.  Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation.

Authors:  Şule Altıner; Nüket Yürür Kutlay
Journal:  Mol Cytogenet       Date:  2019-05-27       Impact factor: 2.009

3.  A prenatal missed diagnosed case of submicroscopic chromosomal abnormalities by karyotyping: the clinical utility of array-based CGH in prenatal diagnostics.

Authors:  Aihua Yin; Jian Lu; Chang Liu; Li Guo; Jing Wu; Mingqin Mai; Yanfang Zhong; Xiaozhuang Zhang
Journal:  Mol Cytogenet       Date:  2014-04-15       Impact factor: 2.009
  3 in total

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