Combined Immunodeficiency with Ring Chromosome 21

2018 ◽  
Vol 38 (3) ◽  
pp. 251-256
Author(s):  
Melissa Norman ◽  
Brynn Wainstein ◽  
Antoinette Anazodo ◽  
Anne Turner ◽  
Cindy Ma ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 21 ◽  
Combined Immunodeficiency

Agminated lentiginosis in a patient with ring chromosome 21

2012 ◽  
Vol 22 (6) ◽  
pp. 801-803
Author(s):  
Maddalena Siragusa ◽  
Maria Lentini ◽  
Carmelo Schepis
Keyword(s):  
Ring Chromosome ◽  
Chromosome 21

Ring chromosome 21 presenting with sacrococcygeal teratoma: Prenatal diagnosis, molecular cytogenetic characterization and literature review

Gene ◽  
2013 ◽  
Vol 522 (1) ◽  
pp. 111-116 ◽  
Author(s):  
Chih-Ping Chen ◽  
Po-Jen Cheng ◽  
Shuenn-Dyh Chang ◽  
Yi-Xuan Lee ◽  
Jin-Chung Shih ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Literature Review ◽  
Ring Chromosome ◽  
Chromosome 21 ◽  
Sacrococcygeal Teratoma ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

P02-167 - Cognitive alexithymia in an adult female with ring chromosome 21 syndrome (R(21))

2010 ◽  
Vol 25 ◽  
pp. 791 ◽  
Author(s):  
J. Egger ◽  
W. Verhoeven ◽  
B. van Bon ◽  
A. Hoischen
Keyword(s):  
Adult Female ◽  
Ring Chromosome ◽  
Chromosome 21

Ring Chromosome 21: Characterization of DNA Sequences at Sites of Breakage and Reunion

1985 ◽  
Vol 450 (1 Molecular org) ◽  
pp. 33-42 ◽  
Author(s):  
HAIG H. KAZAZIAN ◽  
STYLIANOS E. ANTONARAKIS ◽  
CORINNE WONG ◽  
STEPHEN P. TRUSKO ◽  
GAIL STETTEN ◽  
...  
Keyword(s):  
Dna Sequences ◽  
Ring Chromosome ◽  
Chromosome 21

scholarly journals Hypogammaglobulinaemia in a patient with ring chromosome 21

1997 ◽  
Vol 77 (3) ◽  
pp. 252-254 ◽  
Author(s):  
S. Ohga ◽  
F. Nakao ◽  
O. Narazaki ◽  
N. Fusazaki ◽  
T. Aoki ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 21

Stable ring chromosome 21: Molecular and clinical definition of the lesion

1992 ◽  
Vol 42 (1) ◽  
pp. 22-28 ◽  
Author(s):  
T. C. Falik-Borenstein ◽  
T. M. Pribyl ◽  
S. M. Pulst ◽  
D. L. Van Dyke ◽  
L. Weiss ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 21 ◽  
Definition Of ◽  
Stable Ring

Unexpected Coexistence of a Derivative t(21;21) and Complementary Mosaic r(21) in a Female with Multiple Miscarriages

2019 ◽  
Vol 158 (2) ◽  
pp. 83-87
Author(s):  
Duygu Onur Cura ◽  
Elcin Bora ◽  
Hande Ozkalayci ◽  
Ozgur Kirbiyik ◽  
Yasar B. Kutbay ◽  
...  
Keyword(s):  
Female Patient ◽  
Microarray Analysis ◽  
Trisomy 21 ◽  
Ring Chromosome ◽  
Partial Trisomy ◽  
Chromosome 21 ◽  
Fish Analysis ◽  
Recurrent Miscarriages ◽  
Conventional Cytogenetics ◽  
Diagnostic Importance

The case presented here describes a female patient with recurrent miscarriages and a normal microarray analysis result. However, the coexistence of a robertsonian (21;21) translocation and complementary mosaic ring chromosome 21 was detected by karyotyping and FISH analysis. Partial trisomy 21 was found with QF-PCR and microarray analysis in one of the fetuses. The aim of this report was to emphasize the diagnostic importance of conventional cytogenetics.

A Male Infant with Holoprosencephaly, Associated with Ring Chromosome 21

1990 ◽  
pp. 31-31
Author(s):  
D. C. Aronson ◽  
M. C. E. Jansweijer ◽  
J. M. N. Hoovers ◽  
P. G. Barth
Keyword(s):  
Ring Chromosome ◽  
Male Infant ◽  
Chromosome 21
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