Disease: Uniparental disomy of chromosome 2
- <em>LPIN1</em> deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy
- A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology
- A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a <em>GALNT3</em> variant
- A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder
- A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings
- A further case of confined placental mosaicism for trisomy 2 associated with adverse pregnancy outcome
- A Homozygous Deletion of Exon 5 of <em>KYNU</em> Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome
- A monozygotic twin pregnancy discordant for acardia and X-inactivation pattern
- A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
- A rare case of complete uniparental isodisomy of chromosome 2 with no phenotypic abnormalities
- A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing
- Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan
- Another small supernumerary marker chromosome (sSMC) derived from chromosome 2: towards a genotype/phenotype correlation
- Antenatal detection of maternal unipartental disomy of chromosome 2 in a fetus with non-chromosomal, non-syndromic alobar holoprosencephaly
- Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel <em>UNC80</em> Splicing Variant c.5609-4G> A in a Chinese Patient With Infantile Hypotonia With Psychomotor Retardation and Characteristic Facies 2
- Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel UNC80 Splicing Variant c.5609-4G> A in a Chinese Patient With Infantile Hypotonia With Psychomotor Retardation and Characteristic Facies 2
- Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2
- Clinicopathological and molecular features of hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas
- Complete Paternal Uniparental Disomy of Chromosome 2 in an Asian Female Identified by Short Tandem Repeats and Whole Genome Sequencing
- Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case
- Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature
- Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization
- Confined placental mosaicism for trisomy 2 with intrauterine growth retardation and severe oligohydramnios in the absence of uniparental disomy in the fetus
- Confirmation of Paternity despite Three Genetic Incompatibilities at Chromosome 2
- Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis
- Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy
- Duplication of <em>ALK</em> F1245 missense mutation due to acquired uniparental disomy associated with aggressive progression in a patient with relapsed neuroblastoma
- First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant
- Genetic obesity syndromes
- Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center
- Genomic organization of the UBE3A/E6-AP gene and related pseudogenes
- Hepatoblastoma in a patient with sotos syndrome
- Human INHBB Gene Variant (c.1079T>C:p.Met360Thr) Alters Testis Germ Cell Content, but Does Not Impact Fertility in Mice
- Hypercoagulopathy Associated With Uniparental Disomy of Chromosome 2
- Identification of a small supernumerary marker chromosome, r(2)(p10q11.2), and the problem of determining prognosis
- Inference of maternal uniparental disomy of the entire chromosome 2 from a paternity test
- Influence of uniparental disomy on the conclusion of paternity testing
- Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes
- Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3
- Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with positive NIPT and CVS results for trisomy 2, maternal uniparental disomy 2, perinatal progressive decrease of the aneuploid cell line, cytogenetic discrepancy between cultured amni
- Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1
- Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity
- Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation
- Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios
- Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture
- Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome
- Maternal uniparental heterodisomy for chromosome 2: detection through 'atypical' maternal AFP/hCG levels, with an update on a previous case
- Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)
- Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in <em>SPR</em> and <em>ZNF142</em> : A Case Report and Review of the UPD2 Literature
- Mitochondrial DNA depletion syndrome in a newborn with Jaundice Caused by DGUOK mutation and complete uniparental disomy of chromosome 2
- Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith-Wiedemann spectrum
- Mosaic trisomy 2 at amniocentesis: prenatal diagnosis and molecular genetic analysis
- Non-pathological complete paternal uniparental isodisomy of chromosome 2 revealed in a maternity testing case
- Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan
- Nondisjunction and transmission ratio distortion ofChromosome 2 in a (2.8) Robertsonian translocation mouse strain
- Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma
- Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)
- Obesity and developmental delay in a patient with uniparental disomy of chromosome 2
- Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome
- Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
- Paternal uniparental disomy of chromosome 2 resulting in a concurrent presentation of Crigler-Najjar syndrome type I and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with <em>CNGA3</em>-Associated Autosomal Recessive Achromatopsia
- Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice
- Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing
- Prenatal detection of uniparental disomy of chromosome 2 carrying a CHRND pathogenic variant that causes lethal multiple pterygium syndrome
- Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from 2q11.1-q12.1 associated with fetal bilateral radial dysplasia
- Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 2
- Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum screening, oligohydramnios, intrauterine growth restriction, ventricular septal defect, preaxial polydactyly, and facial dysmorphism
- Prenatal diagnosis of partial monosomy 2q (2q37.3→qter) and partial trisomy 10q (10q24.31→qter) of paternal origin associated with increased nuchal translucency and abnormal maternal serum screening results
- Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction
- Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2
- Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion
- Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings
- Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively
- The significance of trisomy 7 mosaicism in noninvasive prenatal screening
- The study of mitochondrial disorder pedigree associated with FASTKD2 variants and uniparental disomy
- Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis
- True trisomy 2 mosaicism in amniocytes and newborn liver associated with multiple system abnormalities
- Uniparental disomy causes deficiencies of vitamin K-dependent proteins
- Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations
- Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn
- Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the <em>TMCO1</em> and <em>PRKRA</em> genes
- Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease
- Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio
- Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping
- Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype