Alström syndrome caused by maternal uniparental disomy [PDF]
American Journal of Ophthalmology Case Reports, 2023 Purpose: To describe a case of Alström syndrome arising from maternal uniparental disomy. Observations: A 13-month-old boy with poor vision and nystagmus was diagnosed with Alström syndrome based on genetic testing that identified a homozygous pathogenic
Madeline Q.R. Lopour +5 more
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A rare case of uniparental disomy 9 concomitant with low-level mosaicism [PDF]
Вавиловский журнал генетики и селекцииUniparental disomy of chromosome 9, in combination with low-level mosaicism for chromosome 9, represents a rare chromosomal disorder. One of the mechanisms underlying the formation of uniparental disomy is the trisomy rescue, which concurrently results ...
A. S. Iakovleva +3 more
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Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction [PDF]
Molecular Cytogenetics, 2023 Uniparental disomy (UPD) is when all or part of the homologous chromosomes are inherited from only one of the two parents. Currently, UPD has been reported to occur for almost all chromosomes.
Xuemei Tan +6 more
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Cytogenetic contribution to uniparental disomy (UPD) [PDF]
Molecular Cytogenetics, 2010 Uniparental disomy (UPD) is often considered as an event to be characterized exclusively by molecular genetic or epigenetic approaches. This review shows that at least one third of UPD cases emerge in connection with or due to a chromosomal rearrangement.
Liehr Thomas
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Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene [PDF]
Molecular Genetics & Genomic Medicine, 2023 Background CHKB mutations have been described in 49 patients with megaconial congenital muscular dystrophy, which is a rare autosomal recessive disorder, of which 40 patients showed homozygosity.
Tenghui Wu +5 more
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Prenatal ultrasound findings and clinical outcomes of uniparental disomy: a retrospective study [PDF]
BMC Pregnancy and ChildbirthBackground Uniparental disomy is the inheritance of a homologous chromosome pair or part of homologous chromosomes from only one parent. However, the clinical significance of uniparental disomy and the difference among the prognosis of involvement of ...
Cui-Yi Wu +4 more
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Case Report: Pediatric CNS-isolated hemophagocytic lymphohistiocytosis secondary to uniparental disomy of PRF1 mutation [PDF]
Frontiers in GeneticsBackgroundCentral nervous system-isolated hemophagocytic lymphohistiocytosis (CNS-HLH) is a rare disease caused by mutations in several genes.MethodsClinical information was obtained from medical records. Genetic analyses were performed using whole-exome
Jiao Xue +7 more
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Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay [PDF]
Clinical Case Reports, 2022 Complete uniparental disomy of chromosome 1 (UPD1) is an uncommon genetic finding about which a specific phenotype has not yet been established. We present a boy who has complete paternal UPD1 and isolated developmental delay and suggest that there is no
Violet Wallerstein +2 more
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Journal of the Formosan Medical Association, 2019 Paternal uniparental disomy 14 (UDP(14)pat) is a rare imprinting disorder with a set of unique neonatal clinical features documented, including craniofacial abnormalities, thoracic and abdominal wall defects, and polyhydraminos. To date, no studies focus
Yiyun Tai, Shin-Yu Lin, Chien-Nan Lee
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Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights [PDF]
Frontiers in ImmunologyObjectiveThe study aims to report a rare case of a novel homozygous variant in the LRBA gene, originating from uniparental disomy of paternal origin. This case contributes new clinical data to the LRBA gene variant database.MethodsThe study details the ...
Lihua Jiang, Sen Chen
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