Disease: Chromosome 14- trisomy mosaic
- A 33-year-old male patient with paternal derived duplication of 14q11.2-14q22.1~22.3: clinical course, phenotypic and genotypic findings
- A case report of the neurocognitive and behavioral phenotype of mosaic trisomy 14
- A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review
- A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism
- Analysis of chromosome abnormalities in sperm and embryos from two 45,XY,t(13;14)(q10;q10) carriers
- CASE-REPORT Low-level trisomy 14 mosaicism in a male newborn with ectrodactyly
- Chromosomal microarray analysis allows prenatal detection of low level mosaic autosomal aneuploidy
- Chromosome missegregation and trisomy 21 mosaicism in Alzheimer's disease
- Clinical and molecular findings in a patient with 46,XX/47,XX,+14 mosaicism caused by postzygotic duplication of a paternally derived chromosome 14
- Complementation in a 45, X/47, XX, +14 patient?
- Complementation in a 45,X/47,XX,+14 patient?
- Complete trisomy 14 mosaicism: first live-born case in Korea
- Concurrent psu dic(21)(q22.3) and t(13;17)(q14.1;p12) in a mosaic Down's syndrome patient: review of thirty-one similar dicentrics
- Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction
- Congenital ocular anomaly in an infant with trisomy 14 mosaicism
- Cytogenetic analysis of 1572 cases of Down syndrome: a report of double aneuploidy and novel findings 47,XY, t(14;21)(q13;q22.3)mat,+21 and 45,XX,t(14;21) in an Indian population
- Cytogenetic studies in Down syndrome
- Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies
- Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal
- First case reported of Turner syndrome and trisomy 14 chromosomal mosaicism in a patient
- First-trimester scan in trisomy 14 mosaicism
- Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review
- High-level mosaic trisomy 14 at amniocentesis in a pregnancy associated with congenital heart defects and intrauterine growth restriction on fetal ultrasound
- Human ESCs predisposition to karyotypic instability: Is a matter of culture adaptation or differential vulnerability among hESC lines due to inherent properties?
- Hypomelanosis of ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism
- Is trisomy 14 mosaic a clinically recognizable syndrome?--case report and review
- Low-level mosaicism of trisomy 14: phenotypic and molecular characterization
- Low-Level Trisomy 14 Mosaicism: A Carrier of an Isochromosome 14 and a Supernumerary Marker Chromosome 14
- Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability
- Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting
- Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14
- Maternal uniparental isodisomy for chromosome 14 detected prenatally
- Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection
- Monochorionic twins discordant for mosaic trisomy 14
- Mosaic 14 trisomy in a female child with multiple abnormalities
- Mosaic and non-mosaic trisomy 15q2
- Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin
- Mosaic trisomy 14 at amniocentesis: prenatal diagnosis and literature review
- Mosaic trisomy 14 due to an iso dicentric chromosome (author's transl)
- Mosaic Trisomy 14 in a Newborn with Multiple Malformations: When Chromosomal Microarray is a Clue to Diagnosis
- Mosaic trisomy 14 with hepatic involvement
- Mosaic trisomy r(14) associated with epilepsy and mental retardation
- Mosaicism in a patient with Down syndrome reveals post-fertilization formation of a Robertsonian translocation and isochromosome
- Nasal encephalocele in a child with mosaic trisomy 14
- Natural history of mosaic trisomy 14 syndrome
- Nonmosaic balanced homologous translocations of major clinical significance: some may be mosaic
- Normal prenatal ultrasound findings reflect outcome in case of trisomy 14 confined placental mosaicism developing after preimplantation genetic diagnosis
- Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis
- Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11)
- Prenatal diagnosis of trisomy for the distal two-thirds of the long arm of chromosome 14 (q21----qter)
- Prenatal diagnosis, fetal pathology, and cytogenetic analysis of mosaic trisomy 14
- Prenatally diagnosed mosaic trisomy 14q with omphalocele
- Risk of mosaicism and uniparental disomy associated with the prenatal diagnosis of a non-homologous Robertsonian translocation carrier
- Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p
- Robertsonian translocations--reproductive risks and indications for preimplantation genetic diagnosis
- Satellite associations and NOR staining in mitoses of trisomy 21 mosaicism
- Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11)
- Sphincterplasty for Velopharyngeal Insufficiency in the Child Without a Cleft-Palate: Etiologies and Speech Outcomes
- Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: trisomy rescue due to marker chromosome formation
- Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low-level mosaicism for trisomy 14
- Trisomy 14 and leukemia
- Trisomy 14 is a non-random karyotypic abnormality associated with myeloid malignancies
- Trisomy 14 mosaicism in a 2 year old girl
- Trisomy 14 mosaicism in a 5-year-old boy
- Trisomy 14 mosaicism leading to cytogenetic discrepancies in chorionic villi sampled at different times
- Trisomy 14 mosaicism syndrome
- Trisomy 14 mosaicism: a case report and review of the literature
- Trisomy 14 Mosaicism: a case without evidence of neurodevelopmental delay and a review of the literature
- Trisomy 14 mosaicism: clinical and cytogenetic findings in an adult
- Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl
- Twin pregnancy discordant for trisomy 14 mosaicism: prenatal sonographic findings
- Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation
- Unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis
- UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome