Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome

2015 ◽  
Vol 41 (7) ◽  
pp. 1133-1136 ◽  
Author(s):  
Takafumi Watanabe ◽  
Hayato Go ◽  
Masayo Kagami ◽  
Shun Yasuda ◽  
Yasuhisa Nomura ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Paternal Uniparental Disomy

Paternal uniparental disomy of chromosome 14: Confirmation of a clinically-recognizable phenotype

2004 ◽  
Vol 130A (1) ◽  
pp. 88-91 ◽  
Author(s):  
David A. Stevenson ◽  
Arthur R. Brothman ◽  
Zhong Chen ◽  
Pinar Bayrak-Toydemir ◽  
Nicola Longo
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Paternal Uniparental Disomy

Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy

2012 ◽  
Vol 21 (4) ◽  
pp. 208-211 ◽  
Author(s):  
Victoria Harrison ◽  
Jane Hurst ◽  
Anjali Lloyd-Jani ◽  
Tracy Lester ◽  
Margaret Lever ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Paternal Uniparental Disomy

scholarly journals Paternal uniparental disomy of chromosome 14

2014 ◽  
Vol 34 (9) ◽  
pp. 723-725 ◽  
Author(s):  
K M Sargar ◽  
T E Herman ◽  
M J Siegel
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Paternal Uniparental Disomy

scholarly journals Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion

2005 ◽  
Vol 50 (3) ◽  
pp. 112-117 ◽  
Author(s):  
Sami Tsukishiro ◽  
Qing Ying Li ◽  
Mitsuyo Tanemura ◽  
Mayumi Sugiura-Ogasawara ◽  
Kaoru Suzumori ◽  
...  
Keyword(s):  
Spontaneous Abortion ◽  
Uniparental Disomy ◽  
Chromosome 7 ◽  
Chromosome 14 ◽  
Paternal Uniparental Disomy

Paternal uniparental disomy for chromosome 14: A case report and review

1997 ◽  
Vol 70 (1) ◽  
pp. 74-79 ◽  
Author(s):  
Philip D. Cotter ◽  
Sara Kaffe ◽  
Leslie D. McCurdy ◽  
Meenakshi Jhaveri ◽  
Judith P. Willner ◽  
...  
Keyword(s):  
Case Report ◽  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Paternal Uniparental Disomy

Placentomegaly in Paternal Uniparental Disomy for Human Chromosome 14

Placenta ◽  
2008 ◽  
Vol 29 (8) ◽  
pp. 760-761 ◽  
Author(s):  
M. Kagami ◽  
K. Yamazawa ◽  
K. Matsubara ◽  
N. Matsuo ◽  
T. Ogata
Keyword(s):  
Human Chromosome ◽  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Paternal Uniparental Disomy

scholarly journals Paternal uniparental disomy for chromosome 14: prenatal management

2019 ◽  
Vol 12 (12) ◽  
pp. e231705
Author(s):  
Joana Isabel Igreja da Silva ◽  
Barbara Ribeiro ◽  
Alexandra Cadilhe ◽  
Cristina Nogueira-Silva
Keyword(s):  
Uniparental Disomy ◽  
First Trimester ◽  
Molecular Study ◽  
Chromosome 14 ◽  
Female Fetus ◽  
Maternal Contribution ◽  
Ultrasound Findings ◽  
Prenatal Management ◽  
Paternal Uniparental Disomy ◽  
First Trimester Ultrasound

We present a case of a 34-year-old multiparous woman who had been diagnosed with a 14 weeks’ gestation showing an abdominal wall bulge possibly representing an omphalocele, containing liver and intestinal loops, at her first-trimester ultrasound scan. At 16 weeks’ gestation, an amniocentesis was performed and karyotype analysis revealed a balanced Robertsonian translocation between chromosomes 13 and 14 in a female fetus (45,XX,der(13;14)(q10;q10)). Given this result and ultrasound findings, karyotype and molecular study of the couple were suggested. The results pointed out the absence of maternal contribution to the analysed regions by paternal uniparental disomy for chromosome 14 (isodisomy), which is associated with a severe phenotype. The correlation between ultrasound findings and the genetic study is primordial to guide the diagnostic assessment and to establish the prognosis of the fetal pathology.

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