Disease: Chromosome 7- trisomy mosaic
- 47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region
- A case of myelodysplastic syndrome with acquired monosomy 7 in a child with a constitutional t(1;19) and a mosaicism for trisomy 21
- A subset of gestational trophoblastic disease characterized by abnormal chromosome 8 copy number detected by fluorescence in situ hybridization
- Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence
- Ascertainment of chromosome 7 gains in malignant gliomas by cytogenetic and RFLP analyses
- Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction
- Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7
- Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism
- Blaschkolinear skin pigmentary variation due to trisomy 7 mosaicism
- Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7
- Characterization of aneuploid populations with trisomy 7 and 20 derived from diploid human colonic epithelial cells
- Chromosomal mosaicism of trisomy 7 restricted to chorionic villi
- Chromosomal mosaicism of trisomy 7 restricted to chorionic villi
- Chromosomal segregation in sperm of the Robertsonian translocation (21;22) carrier and its impact on IVF outcome
- Chromosome 7 aberrations in a young girl with myelodysplasia and hepatoblastoma: an unusual association
- Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases
- Clinical and cytogenetic studies of two cases of Klinefelter syndrome with hereditary retinoblastoma and rhabdomyosarcoma
- Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases
- Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7
- Clonal aberrations of chromosomes X, Y, 7 and 10 in normal kidney tissue of patients with renal cell tumors
- Combined immunophenotyping and DNA in situ hybridization to study lineage involvement in patients with myelodysplastic syndromes
- Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization
- Constitutional trisomy 8p11.21-q11.21 mosaicism: a germline alteration predisposing to myeloid leukaemia
- Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic double trisomy involving trisomy 7 and trisomy 20 (48,XY,+7,+20) at amniocentesis
- De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature
- Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication
- Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism
- Double aneuploidy involving trisomy 7 with Potter sequence
- Duplication/deletion mosaicism of the 7q(21.1 --> 31.3) region
- Evidence for a human mitotic mutant with pleiotropic effect
- Evidence from skewed X inactivation for trisomy mosaicism in Silver-Russell syndrome
- False negative non-invasive prenatal testing (NIPT) result for trisomy 7 and false positive NIPT result for trisomy 2 in a pregnancy associated with low-level mosaic trisomy 7 at amniocentesis and a favorable outcome
- Fluorescence in situ hybridization detection of chromosome 7 and/or 17 polysomy as a prognostic marker for cholangiocarcinoma
- Fluorescent in situ hybridization assessment of chromosome 7 copy number in uncultured lung and kidney cells
- Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature
- Further delineation of 7p trisomy. Case report and review of literature
- Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects
- Homozygous alpha-thalassemia with trisomy 7 mosaicism in a live-born infant
- Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis
- Increased frequency of chromosome abnormalities in fibroblasts from hairy cell leukemia patients
- Infant with hypopigmented streaks
- Loss of chromosomes in clear cell renal cell carcinoma and in corresponding renal parenchyma
- Low-level mosaic trisomy 7 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 7 cell line and a favorable fetal outcome
- Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver-Russell syndrome
- Maternal uniparental disomy 7--review and further delineation of the phenotype
- Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay
- Mosaic copy number variation in schizophrenia
- Mosaic trisomy 7 and renal dysplasia
- Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses
- Mosaic trisomy 7 confined to the placenta
- Mosaic trisomy 7 in a patient with pigmentary abnormalities
- Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry
- Mosaicism in chorionic villus sampling: an analysis of incidence and chromosomes involved in 2612 consecutive cases
- Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum
- Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma
- Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
- On the significance of trisomy 7 and sex chromosome loss in renal cell carcinoma
- Papillary renal neoplasm with reverse polarity may be a novel renal cell tumor entity with low malignant potential
- Patterned hypopigmentation associated with prenatally diagnosed trisomy 7 mosaicism: long-term follow-up
- Phenotypic spectrum of interstitial 7p duplication in mosaic and non-mosaic forms
- Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)
- Pigmentary mosaicism with trisomy 7
- Placental biopsy in the third trimester of pregnancy
- Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1/MEST expression
- Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice
- Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7
- Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose?
- Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus
- Prenatal diagnosis of low-level mosaic trisomy 7 by amniocentesis
- Prenatal diagnosis of mosaicism for double aneuploidy of 47,XXY and trisomy 7 (48,XXY,+7) at amniocentesis in a pregnancy with a favorable outcome
- Prenatal diagnosis of mosaicism for trisomy 7 in a single colony at amniocentesis in a pregnancy with a favorable outcome
- Prenatal genetic diagnosis using microarray analysis in fetuses with congenital heart defects
- Prenatally detected trisomy 7 mosaicism in a dysmorphic child
- Proliferation enhancement by spontaneous multiplication of chromosome 7 in rheumatic synovial cells in vitro
- Rapid confirmation of previously detected prenatal mosaicism by fluorescence in situ hybridization in interphase uncultured amniocytes
- Rare non-mosaic trisomies in chorionic villus tissue not confirmed at amniocentesis
- Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient
- Screening of human placentas for chromosomal mosaicism using comparative genomic hybridization
- Significance of the clonal and sporadic chromosome abnormalities in non-neoplastic renal tissue
- SKY assessment of two karyotypes with 0-6 supernumerary marker/ring chromosomes and review of previously reported cases with two or more markers
- The phenotype in placental trisomy 7
- The significance of trisomy 7 mosaicism in chorionic villus cultures
- The significance of trisomy 7 mosaicism in noninvasive prenatal screening
- Tissue specific trisomy--the significance of confined placental mosaicism
- Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism
- Trisomy 5 and trisomy 7 are nonrandom aberrations in pigmented villonodular synovitis: confirmation of trisomy 7 in uncultured cells
- Trisomy 7 and sex chromosome loss in human brain tissue
- Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases
- Trisomy 7 in chorionic villi: follow-up studies of pregnancy, normal child, and placental clonal anomalies
- Trisomy 7 mosaicism at amniocentesis: interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes for rapid distinguishing of true mosaicism from pseudomosaicism
- Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome
- Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome
- Trisomy 7 mosaicism: prognosis after prenatal diagnosis
- Trisomy 7, trisomy 10, and loss of the Y chromosome in short-term cultures of normal kidney tissue
- Uniparental disomy for chromosome 16 in humans
- Usefulness of interphase FISH on uncultured amniocytes for rapid confirmation of low-level trisomy 7 mosaicism in a pregnancy with fetal intrauterine growth restriction and microcephaly
- What is the evidence for causal epigenetic influences on the Silver-Russell syndrome phenotype?