scholarly journals Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia

2016 ◽  
Vol 37 (5) ◽  
pp. 465-468 ◽  
Author(s):  
Frank X. Donovan ◽  
Danielle C. Kimble ◽  
Yonghwan Kim ◽  
Francis P. Lach ◽  
Ursula Harper ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Mutant Allele ◽  
Uniparental Disomy ◽  
Chromosome 16 ◽  
Maternal Uniparental Disomy

Human maternal uniparental disomy for chromosome 16 and fetal development

1994 ◽  
Vol 14 (8) ◽  
pp. 751-756 ◽  
Author(s):  
Janet Vaughan ◽  
Zehra Ali ◽  
Sarah Bower ◽  
Phillip Bennett ◽  
Tim Chard ◽  
...  
Keyword(s):  
Fetal Development ◽  
Uniparental Disomy ◽  
Chromosome 16 ◽  
Maternal Uniparental Disomy

Maternal uniparental disomy of chromosome 16 and body stalk anomaly

2000 ◽  
Vol 94 (4) ◽  
pp. 284-286 ◽  
Author(s):  
Ying Chan ◽  
Neil Silverman ◽  
Laird Jackson ◽  
Ronald Wapner ◽  
Robert Wallerstein
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 16 ◽  
Maternal Uniparental Disomy

scholarly journals Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology

2018 ◽  
Vol 56 (6) ◽  
pp. 413-418 ◽  
Author(s):  
Takanobu Inoue ◽  
Hideaki Yagasaki ◽  
Junko Nishioka ◽  
Akie Nakamura ◽  
Keiko Matsubara ◽  
...  
Keyword(s):  
Snp Array ◽  
Uniparental Disomy ◽  
Gene Mutations ◽  
Growth Failure ◽  
Postnatal Growth ◽  
Differentially Methylated Region ◽  
Unknown Aetiology ◽  
Chromosome 16 ◽  
Maternal Uniparental Disomy ◽  
Silver Russell Syndrome

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.

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 ◽  
...  
Keyword(s):  
Spontaneous Abortion ◽  
Uniparental Disomy ◽  
Chromosome 16 ◽  
Maternal Uniparental Disomy

Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart’s hydrops fetalis

2008 ◽  
Vol 74 (3) ◽  
pp. 284-287 ◽  
Author(s):  
D Wattanasirichaigoon ◽  
P Promsonthi ◽  
A Chuansumrit ◽  
J Leopairut ◽  
P Yanatatsaneejit ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Hydrops Fetalis ◽  
Chromosome 16 ◽  
Maternal Uniparental Disomy

A Fetus with Hb Bart’s Disease Due to Maternal Uniparental Disomy for Chromosome 16

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 ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 16 ◽  
Maternal Uniparental Disomy ◽  
Hb Bart's

Maternal Uniparental Disomy for Chromosome 16

2009 ◽  
pp. 1267-1268
Author(s):  
Mark Oette ◽  
Marvin J. Stone ◽  
Hendrik P. N. Scholl ◽  
Peter Charbel Issa ◽  
Monika Fleckenstein ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 16 ◽  
Maternal Uniparental Disomy

Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself

2017 ◽  
Vol 92 (1) ◽  
pp. 45-51 ◽  
Author(s):  
R. Scheuvens ◽  
M. Begemann ◽  
L. Soellner ◽  
D. Meschede ◽  
G. Raabe-Meyer ◽  
...  
Keyword(s):  
Clinical Features ◽  
Uniparental Disomy ◽  
Chromosome 16 ◽  
Trisomy 16 ◽  
Maternal Uniparental Disomy
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