Disease: Chromosome 18- trisomy 18q
- "Facilitated consensus," "ethics facilitation," and unsettled cases
- A Case of a Derivative Chromosome: der(Y)t(Y;18)Pat with Congenital Abnormalities
- A patient with hypopituitarism and isochromosome 18q mosaicism
- A study of a rare chromosomal disorder: mosaic 46, XX, del (18)(p11.2)/46, XX, i(18q)
- Biclonal Diffuse Large B-cell Lymphoma Commonly Characterized by Partial Trisomy 18q Involving MALT1 and BCL2
- Cerebral white matter abnormalities associated with chromosome 18q duplication
- Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18
- Commentary on "Consensus, clinical decision making, and unsettled cases"
- Common structural features characterize interstitial intrachromosomal Xp and 18q triplications
- Confronting ambiguity: identifying options for infants with trisomy 18
- Consensus, clinical decision making, and unsettled cases
- Different conformation of two supernumerary 18p isochromosomes, one with a concomitant partial 18q trisomy
- Duplication of 18q21.32-q22.3 identified in a stillborn and two relatives with minimal dysmorphic features
- Elevated expression of T-antigen in simian papovavirus 40-infected skin fibroblasts from individuals with cytogenetic defects
- Epilepsy and chromosome 18 abnormalities: A review
- First-trimester screening for trisomy 21 in Denmark: implications for detection and birth rates of trisomy 18 and trisomy 13
- Gene expression analysis of amniotic fluid: new biomarkers and novel antenatal treatments
- Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region
- Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism
- HDlive imaging of the face of fetuses with autosomal trisomies
- Noninvasive prenatal testing for aneuploidy-ready for prime time?
- Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication
- Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations
- Partial trisomy 18q and epileptic spasms induced by eating associated with bilateral opercular dysplasia
- Prenatal diagnosis and molecular cytogenetic characterization of partial dup(18q)/del(18p) due to a paternal pericentric inversion 18 in a fetus with multiple anomalies
- Prenatal diagnosis of de novo partial trisomy 18p and partial monosomy 18q recurrent in a family with fatal aortic coarctation
- Prenatal diagnosis of i(18q) and dup(18q) cases by quantitative fluorescent PCR
- Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion
- Severe epilepsy in an adult with partial trisomy 18q
- Strawberry skull in Edwards syndrome
- Tandem triplication of the BCL2 gene in CD5-positive intravascular large B cell lymphoma with bone marrow involvement
- The role of the clinical ethics consultant in "unsettled" cases
- The trisomy 18 syndrome
- Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18
- When Cri du chat syndrome meets Edwards syndrome