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

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

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.

Paternal Uniparental Disomy of Chromosome 14 with Hypospadias

2016 ◽  
Vol 148 (4) ◽  
pp. 256-261 ◽  
Author(s):  
Haiming Yuan ◽  
Yingjun Xie ◽  
Qian Li ◽  
Xizi Hu ◽  
Xinwei Li ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Normal Karyotype ◽  
Nucleotide Polymorphisms ◽  
Chromosome 14 ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Specific Configuration ◽  
Paternal Uniparental Disomy ◽  
Uniparental Disomy 14 ◽  
Genetic Phenomenon

Paternal uniparental disomy 14 (patUPD14) is a distinct, clinically recognizable syndrome. Using a clinical SNP microarray, we identified patUPD14 in a boy with a normal karyotype presenting cardiomyopathy and facial anomalies, a specific configuration of the thoracic ribs (‘coat hanger sign'), and hypospadias. Analyses of polymorphic microsatellites confirmed the diagnosis of patUPD14. We discuss the functions of the genes included in the rearrangement and their involvement in the pathogenesis of these disorders, especially hypospadias. ESR2 single nucleotide polymorphisms (rs944050; 2681-4A>G) have been associated with an increased risk of hypospadias in previous studies. The patient's ESR2 (rs944050) genotype is GG, whereas the parents both exhibit an AG genotype. This report sheds light on the genetic phenomenon in which the combination of a polymorphism and UPD can lead to new phenotypes, such as hypospadias.

Prenatal findings of paternal uniparental disomy 14: Report of four patients

2010 ◽  
Vol 152A (3) ◽  
pp. 789-791 ◽  
Author(s):  
Michiko Yamanaka ◽  
Hiroshi Ishikawa ◽  
Keisuke Saito ◽  
Yasuyo Maruyama ◽  
Katsuske Ozawa ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Paternal Uniparental Disomy ◽  
Uniparental Disomy 14
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