scholarly journals P11.15: Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14: the “coat-hanger” sign as a diagnostic clue

2004 ◽  
Vol 24 (3) ◽  
pp. 332-332
Author(s):  
E. Antonelli ◽  
L. Curtis ◽  
P. Rimensberger ◽  
S. Fokstuen ◽  
O. Irion ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Prenatal Ultrasound ◽  
Ultrasound Findings ◽  
Paternal Uniparental Disomy ◽  
Diagnostic Clue ◽  
Uniparental Disomy 14

scholarly journals Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami–Ogata Syndrome

2021 ◽  
Vol 9 ◽  
Author(s):  
Fenxia Li ◽  
Siping Liu ◽  
Bei Jia ◽  
Ruifeng Wu ◽  
Qingxian Chang
Keyword(s):  
Prenatal Diagnosis ◽  
Uniparental Disomy ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Imprinting Disorder ◽  
Small Bell ◽  
Ultrasound Findings ◽  
Paternal Uniparental Disomy ◽  
Uniparental Disomy 14 ◽  
Dependent Probe

The Kagami–Ogata syndrome (KOS) is a rare imprinting disorder with a distinct clinical phenotype. In KOS, polyhydramnios is associated with a small bell-shaped thorax and coat-hanger ribs. The genetic etiology of KOS includes paternal uniparental disomy 14 [upd(14)pat], epimutations, and microdeletions affecting the maternally derived imprinted region of chromosome 14q32.2. More than 77 cases of KOS have been reported; however, only one mosaic upd(14)pat case has been reported. Here we report a second mosaic upd(14)pat case. The prognosis of upd(14)pat patients is poor because of severe respiratory insufficiency. We summarized prenatal ultrasound findings of KOS to raise awareness of this condition for possible diagnosis of KOS prenatally when polyhydramnios combination with a small bell-shaped thorax and other related features are first observed. Prenatal diagnosis using methylation-specific multiplex ligation-dependent probe amplification (MLPA) or a single-nucleotide polymorphism-based microarray analysis is recommended.

Prenatal diagnostic indicators of paternal uniparental disomy 14

2006 ◽  
Vol 26 (8) ◽  
pp. 662-666 ◽  
Author(s):  
Logos Curtis ◽  
Eric Antonelli ◽  
Yvan Vial ◽  
Peter Rimensberger ◽  
Martine Le Merrer ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Prenatal Diagnostic ◽  
Paternal Uniparental Disomy ◽  
Uniparental Disomy 14

Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14

2011 ◽  
Vol 41 (8) ◽  
pp. 1013-1019 ◽  
Author(s):  
Osamu Miyazaki ◽  
Gen Nishimura ◽  
Masayo Kagami ◽  
Tsutomu Ogata
Keyword(s):  
Uniparental Disomy ◽  
Radiological Evaluation ◽  
Paternal Uniparental Disomy ◽  
Uniparental Disomy 14

scholarly journals Hepatoblastoma in an infant with paternal uniparental disomy 14

2012 ◽  
Vol 52 (4) ◽  
pp. 219-220 ◽  
Author(s):  
Mariko Horii ◽  
Hiroko Horiuchi ◽  
Mikio Momoeda ◽  
Machiko Nakagawa ◽  
Michio Hirata ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Paternal Uniparental Disomy ◽  
Uniparental Disomy 14

Prenatal findings of paternal uniparental disomy 14: Delineation of further patient

2010 ◽  
Vol 152A (12) ◽  
pp. 3189-3192 ◽  
Author(s):  
Nobuhiro Suzumori ◽  
Tsutomu Ogata ◽  
Eita Mizutani ◽  
Yukio Hattori ◽  
Keiko Matsubara ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Paternal Uniparental Disomy ◽  
Uniparental Disomy 14

Paternal uniparental disomy 14: introducing the 'coat-hanger' sign

2003 ◽  
Vol 33 (7) ◽  
pp. 509-512 ◽  
Author(s):  
Amaka C. Offiah ◽  
Luc Cornette ◽  
Christine M. Hall
Keyword(s):  
Uniparental Disomy ◽  
Paternal Uniparental Disomy ◽  
Uniparental Disomy 14

A Maternally Inherited 133 kb Deletion of 14q32.2q32.31 Associated with a Paternal Uniparental Disomy 14 Phenotype

2016 ◽  
Vol 209 (6) ◽  
pp. 301
Author(s):  
Stephanie E. Vallee ◽  
Laura J. Tafe ◽  
Mary Beth P. Dinulos ◽  
Gregory J. Tsongalis ◽  
Joel A. Lefferts
Keyword(s):  
Uniparental Disomy ◽  
Paternal Uniparental Disomy ◽  
Uniparental Disomy 14

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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