Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Eliza A. Phillips ◽  
Oana Caluseriu ◽  
Kamilla Schlade-Bartusiak ◽  
Judy Chernos ◽  
D. Ross McLeod ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Ring Chromosome ◽  
Chromosome 4 ◽  
Gonadal Mosaicism ◽  
Complete Ring

Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy

2009 ◽  
Vol 149A (12) ◽  
pp. 2782-2787 ◽  
Author(s):  
Yasemin Soysal ◽  
Sevim Balcı ◽  
Kuyaş Hekimler ◽  
Thomas Liehr ◽  
Elisabeth Ewers ◽  
...  
Keyword(s):  
Hip Dislocation ◽  
Ring Chromosome ◽  
Chromosome 4 ◽  
Double Ring ◽  
Cortical Dysgenesis

Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia

2007 ◽  
Vol 27 (5) ◽  
pp. 471-474 ◽  
Author(s):  
Elghezal Hatem ◽  
Ben Rekaya Meriam ◽  
Denguezli Walid ◽  
Moussa Adenen ◽  
Gribaa Moez ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Diaphragmatic Hernia ◽  
Growth Retardation ◽  
Ring Chromosome ◽  
Chromosome 15 ◽  
Uterine Growth ◽  
Intra Uterine Growth Retardation

A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature

2019 ◽  
Vol 62 (11) ◽  
pp. 103564 ◽  
Author(s):  
Iris Unterberger ◽  
Judith Dobesberger ◽  
Harald Schober ◽  
Birgit Krabichler ◽  
Claudia Lamina ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Ring Chromosome ◽  
Review Of The Literature ◽  
Chromosome 20

Molecular cytogenetic characterization of ring chromosome 4 in a female having a chromosomally normal child

2005 ◽  
Vol 111 (2) ◽  
pp. 175-178 ◽  
Author(s):  
M.-H. Lee ◽  
S.-Y. Park ◽  
Y.-M. Kim ◽  
J.-M. Kim ◽  
K.-J. Yoo ◽  
...  
Keyword(s):  
Normal Child ◽  
Ring Chromosome ◽  
Chromosome 4 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

Identification and Molecular Characterization of a de novo Supernumerary Ring Chromosome 18 in a Patient with Klippel-Trenaunay Syndrome

2004 ◽  
Vol 68 (4) ◽  
pp. 353-361 ◽  
Author(s):  
A. Anil Timur ◽  
Azita Sadgephour ◽  
Michael Graf ◽  
Stuart Schwartz ◽  
Eric D. Libby ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Ring Chromosome ◽  
Chromosome 18 ◽  
Klippel Trenaunay Syndrome ◽  
Ring Chromosome 18

scholarly journals Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations

2015 ◽  
Vol 8 (1) ◽  
pp. 17 ◽  
Author(s):  
Mariasavina Severino ◽  
Andrea Accogli ◽  
Giorgio Gimelli ◽  
Andrea Rossi ◽  
Svetlana Kotzeva ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Growth Failure ◽  
Ring Chromosome ◽  
Chromosome 2 ◽  
Brain Malformations

Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature

2017 ◽  
Vol 173 (3) ◽  
pp. 727-732 ◽  
Author(s):  
Anna Lena Burgemeister ◽  
Eva Daumiller ◽  
Ilona Dietze-Armana ◽  
Christine Klett ◽  
Clemens Freiberg ◽  
...  
Keyword(s):  
Case Report ◽  
Ring Chromosome ◽  
Chromosome 4 ◽  
Review Of Literature ◽  
Complete Ring ◽  
Classical Cytogenetics
Sign in / Sign up

Export Citation Format

Share Document