Literature DB >> 11185077

Dysmorphic sibs trisomic for the region 6q22.1-->6q23.3.

D L Goh, A S Tan, J Y Chen, J A Van Den Berghe.   

Abstract

Mesh：

Year:  2000        PMID： 11185077      PMCID： PMC1734470          DOI： 10.1136/jmg.37.11.889

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  6 in total

1.  De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype-Phenotype Correlation.

Authors:  Emine Ikbal Atli; Hakan Gurkan; Engin Atli; Ulfet Vatansever; Betul Acunas; Cisem Mail
Journal:  J Pediatr Genet       Date:  2019-08-12

2.  Pure interstitial dup(6)(q22.31q22.31) - a case report.

Authors:  Frenny Sheth; Sunil Trivedi; Joris Andrieux; Jean-Louis Blouin; Jayesh Sheth
Journal:  Ital J Pediatr       Date:  2015-01-31       Impact factor: 2.638

3.  Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

Authors:  Malgorzata I Srebniak; Laura J C M van Zutven; Florence Petit; Sonia Bouquillon; Ilse P J van Heel; Maarten F C M Knapen; Jerome M J Cornette; Andreas Kremer; Diane Van Opstal; Karin E M Diderich
Journal:  Mol Cytogenet       Date:  2016-06-02       Impact factor: 2.009

4.  Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization.

Authors:  Farkhondeh Behjati; Saghar Ghasemi Firouzabadi; Roxana Kariminejad; Roshanak Vameghi; Firouzeh Sajedi; Yousef Shafaghati; Behruz Ebrahimizade Ghasemlou; Azadeh Shojaei; Peyman Jamali; Ideh Bahman; Hossein Najmabadi
Journal:  Indian J Hum Genet       Date:  2013-10

5.  Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype.

Authors:  Ponnila S Marinescu; Devereux N Saller; W Tony Parks; Svetlana A Yatsenko; Aleksandar Rajkovic
Journal:  Clin Case Rep       Date:  2014-10-15

6.  Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report.

Authors:  A Karaman; B Karaman; A Çetinkaya; S Karaman; O Demirci
Journal:  Balkan J Med Genet       Date:  2020-08-26       Impact factor: 0.519
  6 in total

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