Literature DB >> 1424237

Typical and partial cat eye syndrome: identification of the marker chromosome by FISH.

T Liehr1, R A Pfeiffer, U Trautmann.   

Abstract

Three children are reported with typical cat eye syndrome (CES) and three more children with partial CES because of absence of coloboma, in which the supernumerary marker chromosome was studied by FISH. Using a genomic library, and also a centromeric and particularly a cosmid probe of 22q11, partial tetrasomy was shown in all cases.

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Year:  1992        PMID： 1424237     DOI： 10.1111/j.1399-0004.1992.tb03146.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 in total

1.  Human ring chromosomes and small supernumerary marker chromosomes-do they have telomeres?

Authors:  Roberta Santos Guilherme; Elisabeth Klein; Claudia Venner; Ahmed B Hamid; Samarth Bhatt; Maria Isabel Melaragno; Marianne Volleth; Anna Polityko; Anna Kulpanovich; Nadezda Kosyakova; Thomas Liehr
Journal:  Chromosome Res       Date:  2012-10-18       Impact factor: 5.239

2.  Cat eye syndrome.

Authors:  Deepak Sharma; Srinivas Murki; Tejo Pratap; Madhavi Vasikarla
Journal:  BMJ Case Rep       Date:  2014-05-19

3.  Coloboma and anorectal malformations: a rare association with important clinical implications.

Authors:  Giulia Brisighelli; Andrea Bischoff; Marc Levitt; Jennifer Hall; Elizabeth Monti; Alberto Peña
Journal:  Pediatr Surg Int       Date:  2013-09       Impact factor: 1.827

4.  Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.

Authors:  P Stankiewicz; E Bocian; K Jakubów-Durska; E Obersztyn; E Lato; H Starke; K Mroczek; T Mazurczak
Journal:  J Med Genet       Date:  2000-02       Impact factor: 6.318

5.  Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.

Authors:  Heike Starke; Angela Nietzel; Anja Weise; Anita Heller; Kristin Mrasek; Britta Belitz; Christine Kelbova; Marianne Volleth; Beate Albrecht; Beate Mitulla; Ralf Trappe; Iris Bartels; Sabine Adolph; Andreas Dufke; Sylke Singer; Markus Stumm; Rolf-Dieter Wegner; Jörg Seidel; Angela Schmidt; Alma Kuechler; Isolde Schreyer; Uwe Claussen; Ferdinand von Eggeling; Thomas Liehr
Journal:  Hum Genet       Date:  2003-09-16       Impact factor: 4.132

Review 6.  Small supernumerary marker chromosomes and their correlation with specific syndromes.

Authors:  Hamideh Jafari-Ghahfarokhi; Maryam Moradi-Chaleshtori; Thomas Liehr; Morteza Hashemzadeh-Chaleshtori; Hossein Teimori; Payam Ghasemi-Dehkordi
Journal:  Adv Biomed Res       Date:  2015-07-27
  6 in total

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