Prenatal diagnostic indicators of paternal uniparental disomy 14

Abstract

Pat UPD14 is associated with a distinct clinical phenotype. Prognosis is poor because of severe respiratory insufficiency and neurodevelopmental retardation. Our report confirms salient postnatal signs of previous descriptions, especially the characteristic radiological abnormalities with ribs showing a 'coat-hanger' configuration. Retrospective fetal ultrasound of our case allowed the identification of this pathognomonic feature prenatally, which makes it possible to consider pat UPD14 at routine prenatal sonography, in particular in combination with a small bell-shaped thorax and polyhydramnios.

Hepatoblastoma in an infant with paternal uniparental disomy 14

“…More than 19 cases of upd(14)pat have been reported in the literature (Curtis et al 2006;Mattes et al 2007), and it is estimated that more than 30 cases are recognized in Japan (Ueda et al 2011). To date, our group has experienced five cases, four of which have been reported in the literature (Yamanaka et al 2010).…”

“…Our fifth case, reported here, developed hepatoblastoma within 7 months of birth. There has been no previously reported association with hepatoblastoma in the literature; only one case of hepatic cancer has been reported to date (Curtis et al 2006). In molecular analyses of sporadic hepatoblastomas loss of heterozygosity (LOH) of chromosome 11p15.5 region has been found.…”

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

“…Nevertheless, it is difficult to identify small thorax with coat‐hanger ribs on routine ultrasound. Prenatal detection of coat‐hanger ribs on X‐ray or 3‐D ultrasonography has been reported . In the present case, MRI showed only the small thorax, but MRI may be useful for identifying the coat‐hanger appearance of the ribs in some cases because MRI does not have radiation exposure and is unaffected by fetal position.…”

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

“…Here we report on a new case of r(14) in a fetus with severe skeletal dysplasia and clinical features reminiscent of the phenotype described in paternal uniparental disomy of chromosome 14 [upd(14)pat] (Curtis et al, 2006). The clinical features observed in the present case are compared to those reported in previously published cases of r(14) and upd (14)pat (Jean et al, 1997;Van Karnebeek et al, 2002;McGowan et al, 2002;Sutton et al, 2003;Kagami et al, 2005;Curtis et al, 2006).…”

“…As shown in McGowan et al, 2002, Sutton et al, 2003, Offiah et al, 2003, Kagami et al, 2005, Curtis et al, 2006 since precise dysmorphic description is difficult at this term. In the unique case of prenatally diagnosed ring chromosome 14, revealed by a 8 mm cystic hygroma, the pregnancy was terminated at 14 weeks of gestation (Jean et al, 1997).…”