scholarly journals Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion

2004 ◽  
Vol 49 (4) ◽  
pp. 177-181 ◽  
Author(s):  
Yuko Kondo ◽  
Sami Tsukishiro ◽  
Mitsuyo Tanemura ◽  
Mayumi Sugiura-Ogasawara ◽  
Kaoru Suzumori ◽  
...  
1994 ◽  
Vol 14 (8) ◽  
pp. 751-756 ◽  
Author(s):  
Janet Vaughan ◽  
Zehra Ali ◽  
Sarah Bower ◽  
Phillip Bennett ◽  
Tim Chard ◽  
...  

Author(s):  
Ying Chan ◽  
Neil Silverman ◽  
Laird Jackson ◽  
Ronald Wapner ◽  
Robert Wallerstein

2018 ◽  
Vol 56 (6) ◽  
pp. 413-418 ◽  
Author(s):  
Takanobu Inoue ◽  
Hideaki Yagasaki ◽  
Junko Nishioka ◽  
Akie Nakamura ◽  
Keiko Matsubara ◽  
...  

BackgroundRecently, a patient with maternal uniparental disomy of chromosome 16 (UPD(16)mat) presenting with Silver-Russell syndrome (SRS) phenotype was reported. SRS is characterised by growth failure and dysmorphic features.ObjectiveTo clarify the prevalence of UPD(16)mat in aetiology-unknown patients with SRS phenotype and phenotypic differences between UPD(16)mat and SRS.MethodsWe studied 94 patients with SRS phenotype of unknown aetiology. Sixty-three satisfied the Netchine-Harbison clinical scoring system (NH-CSS) criteria, and 25 out of 63 patients showed both protruding forehead and relative macrocephaly (clinical SRS). The remaining 31 patients met only three NH-CSS criteria, but were clinically suspected as having SRS. To detect UPD(16)mat, we performed methylation analysis for the ZNF597:TSS-differentially methylated region (DMR) on chromosome 16 and subsequently performed microsatellite, SNP array and exome analyses in the patients with hypomethylated ZNF597:TSS-DMR.ResultsWe identified two patients (2.1%) with a mixture of maternal isodisomy and heterodisomy of chromosome 16 in 94 aetiology-unknown patients with SRS phenotype. Both patients exhibited preterm birth and prenatal and postnatal growth failure. The male patient had ventricular septal defect and hypospadias. Whole-exome sequencing detected no gene mutations related to their phenotypes.ConclusionWe suggest considering genetic testing for UPD(16)mat in SRS phenotypic patients without known aetiology.


2008 ◽  
Vol 74 (3) ◽  
pp. 284-287 ◽  
Author(s):  
D Wattanasirichaigoon ◽  
P Promsonthi ◽  
A Chuansumrit ◽  
J Leopairut ◽  
P Yanatatsaneejit ◽  
...  

Hemoglobin ◽  
2015 ◽  
Vol 40 (1) ◽  
pp. 66-69 ◽  
Author(s):  
Patrick K.C. Au ◽  
Anita S.Y. Kan ◽  
Mary H.Y. Tang ◽  
Kwok Y. Leung ◽  
Kelvin Y.K. Chan ◽  
...  

2016 ◽  
Vol 37 (5) ◽  
pp. 465-468 ◽  
Author(s):  
Frank X. Donovan ◽  
Danielle C. Kimble ◽  
Yonghwan Kim ◽  
Francis P. Lach ◽  
Ursula Harper ◽  
...  

Author(s):  
Mark Oette ◽  
Marvin J. Stone ◽  
Hendrik P. N. Scholl ◽  
Peter Charbel Issa ◽  
Monika Fleckenstein ◽  
...  

2017 ◽  
Vol 92 (1) ◽  
pp. 45-51 ◽  
Author(s):  
R. Scheuvens ◽  
M. Begemann ◽  
L. Soellner ◽  
D. Meschede ◽  
G. Raabe-Meyer ◽  
...  

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