Paternal Uniparental Disomy of Chromosome 14 with Hypospadias

Yuan, Haiming; Xie, Yuan; Li, Qian; Hu, Xizi; Li, Xinwei; Sun, Xiaofang; Zhao, Weiwei

doi:10.1159/000446783

Cited by 5 publications

(2 citation statements)

References 25 publications

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“…There has been over 20 case reports about paternal UPD 14. [ 3 , 12 , 13 , 25 – 29 ] Unique facial appearance, specific configuration of the thoracal ribs (“coat-hanger sign”), bell-shaped thorax, polyhydramnios, intrauterine growth restriction, and cardiomyopathy are cardinal features prenatally. Most cases die shortly after birth or in infancy.…”

Section: Discussionmentioning

confidence: 99%

Uniparental disomy and prenatal phenotype

Liu²,

Song³

et al. 2017

Medicine

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Rationale:Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin.Patient concerns:We report prenatal phenotypes of 2 rare cases of UPD.Diagnoses:The prenatal phenotype of case 1 included sonographic markers such as enlarged nuchal translucency (NT), absent nasal bone, short femur and humerus length, and several structural malformations involving Dandy–Walker malformation and congenital heart defects. The prenatal phenotype of Case 2 are sonographic markers, including enlarged NT, thickened nuchal fold, ascites, and polyhydramnios without apparent structural malformations.Interventions:Conventional G-band karyotype appears normal in case 1, while it shows normal chromosomes with a small supernumerary marker chromosome (sSMC) in case 2. Genetic etiology was left unknown until single-nucleotide polymorphism-based array (SNP-array) was performed, and segmental paternal UPD 22 was identified in case 1 and segmental paternal UPD 14 was found in case 2.Outcomes:The parents of case 1 chose termination of pregnancy. The neonate of case 2 was born prematurely with a bellshaped small thorax and died within a day.Lessons:UPD cases are rare and the phenotypes are different, which depend on the origin and affected chromosomal part. If a fetus shows multiple anomalies that cannot be attributed to a common aneuploidy or a genetic syndrome, or manifests some features possibly related to an UPD syndrome, such as detection of sSMC, SNP-array should be considered.

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Section: Discussionmentioning

confidence: 99%

Uniparental disomy and prenatal phenotype

Liu²,

Song³

et al. 2017

Medicine

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“…Male patients with KOS have also been reported to have cryptorchidism, hypospadias, bilateral scrotum (scrotal fission), and penile scrotal transposition. 1,[6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21] It is unknown whether KOS affects fertility. To date only four adult cases of KOS have been described and no comments regarding their fertility were made by the authors.…”

Section: Clinical Featuresmentioning

confidence: 99%

Kagami-Ogata Syndrome: Case Series and Review of Literature

Sakaria

Mostafavi

Miller

et al. 2021

AJP Rep

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Kagami-Ogata syndrome (KOS) (OMIM #608149) is a genetic imprinting disorder affecting chromosome 14 that results in a characteristic phenotype consisting of typical facial features, skeletal abnormalities including rib abnormalities described as “coat hanger ribs,” respiratory distress, abdominal wall defects, polyhydramnios, and developmental delay. First identified by Wang et al in 1991, over 80 cases of KOS have been reported in the literature. KOS, however, continues to remain a rare and potentially underdiagnosed disorder. In this report, we describe two unrelated male infants with differing initial presentations who were both found to have the characteristic “coat hanger” rib appearance on chest X-ray, raising suspicion for KOS. Molecular testing confirmed KOS in each case. In addition to these new cases, we reviewed the existing cases reported in literature. Presence of polyhydramnios, small thorax, curved ribs, and abdominal wall defects must alert the perinatologist toward the possibility of KOS to facilitate appropriate molecular testing. The overall prognosis of KOS remains poor. Early diagnosis allows for counseling by a multidisciplinary team and enables parents to make informed decisions regarding both pregnancy management and postnatal care.

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