• 18p-Mosaicism: case report and review
• 18q- and 18q+ mosaicism in a mentally retarded boy
• 18q-mosaicism associated with Rett syndrome phenotype
• 46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q- syndrome
• A case of de novo mosaic 18q21.3 deletion with a mild phenotype
• A case of pseudoisodicentric chromosome 18q detected at prenatal diagnosis
• A female with monosomy 18 mosaicism: a previously undescribed chromosome abnormality
• A mosaic case of isodicentric chromosome 18
• A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability
• A patient with hypopituitarism and isochromosome 18q mosaicism
• A pregnancy with discordant fetal and placental chromosome 18 aneuploidies revealed by invasive and noninvasive prenatal diagnosis
• A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome
• A study of a rare chromosomal disorder: mosaic 46, XX, del (18)(p11.2)/46, XX, i(18q)
• Abnormalities of chromosome 18 in a girl with mental retardation and autistic disorder
• aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis
• An unexpected finding in a child with neurological problems: mosaic ring chromosome 18
• Assessment of numeric abnormalities of X, Y, 18, and 16 chromosomes in preimplantation human embryos before transfer
• Autopsy findings of a 37-year-old man with a complex mosaic karyotype involving del(18p), monosomy 13, and trisomy 20
• BACs-on-Beads™ (BoBs™) assay for the genetic evaluation of prenatal samples and products of conception
• Chromosomal deletions detected at amniocentesis
• Chromosomal mosaicism in spontaneous abortions: analysis of 650 cases
• Chromosome 18 aneuploidy: anatomical variations observed in cases of full and mosaic trisomy 18 and a case of deletion of the short arm of chromosome 18
• Chromosome abnormalities in Indonesian patients with short stature
• Clinical course of a 20-month-old child diagnosed prenatally with mosaic ring chromosome 18 and monosomy 18
• Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: clinical report and review of the literature
• Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype
• Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies
• Cognitive ability predicts degree of genetic abnormality in participants with 18q deletions
• Complete karyotype discrepancy between placental and fetal cells in a case of ring chromosome 18
• Cytogenetic, Molecular, and Phenotypic Characterization of a Patient with de novo Derivative Chromosome 18 and Review of the Literature
• Cytogenetics of premature ovarian failure: an investigation on 269 affected women
• Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH
• Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl
• Deletion of the ferrochelatase gene in a patient with protoporphyria
• Erythropoietic protoporphyria, heterozygous cystinuria, and reduced peptidase A activity in a patient with 46,XX/46,XX,18q--mosaicism
• Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/
• First familial case of ring chromosome 18 and monosomy 18 mosaicism
• First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome
• FISH analysis of fetal nucleated red blood cells from CVS washings in cases of aneuploidy
• Follow-Up Studies of cf-DNA Testing from 101 Consecutive Fetuses and Related Ultrasound Findings
• Genetic mosaicism in an acquired inflammatory dermatosis following the lines of Blaschko
• Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts
• Intractable epilepsy (apneic seizure) in an infant with 18q deletion syndrome
• Lack of aneuploidy for chromosomes 15, 16, and 18 in placentas from small-for-gestational-age liveborn infants
• Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion
• Low-prevalence mosaicism of chromosome 18q distal deletion identified by exome-based copy number profiling in a child with cerebral hypomyelination
• Maternal urinary beta-core hCG in chromosomally abnormal pregnancies in the first trimester
• Molecular investigation of the parental origin of a de novo unbalanced translocation 13/18
• Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3)
• Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid
• Mosaic chromosome 18q partial deletion syndrome with bilateral full-thickness corneal disease: surgical intervention and histopathology
• Mosaic isodicentric chromosome 18q: sixth report and review
• Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin
• Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization
• Mosaic variant of the chromosome 18 partial monosomy syndrome
• Non-Invasive Prenatal Genetic Testing (NIPT) Leading to Prenatal Diagnosis of Trisomy 21 Mosaicism and 18q Deletion Syndrome: Two Cases
• Phenotypic features in a boy with monosomy 18 mosaicism
• Prenatal diagnosis and fetopathological findings in a fetus with ring chromosome 18
• Prenatal diagnosis of 18p deletion and isochromosome 18q mosaicism in a fetus with a cystic hygroma
• Prenatal diagnosis of 18q-syndrome: a case of fetal mosaicism with a normal karyotype in chorionic villi
• Prenatal diagnosis of a de novo satellited chromosome 18 (18ps) associated with 18p deletion
• Prenatal diagnosis of de novo mosaic distal 18q deletion associated with congenital anomalies
• Prenatal diagnosis of monosomy 18 and ring chromosome 18 mosaicism
• Prenatal diagnosis of mosaicism for del(18)(q12.2q21.1) and a normal cell line
• Prophase pairing in a mosaic 18p-;iso 18q human female foetus studied by surface spreading
• Quantitative fluorescence PCR analysis of >40,000 prenatal samples for the rapid diagnosis of trisomies 13, 18 and 21 and monosomy X
• Rapid screening for chromosomal aneuploidies using array-MLPA
• Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18
• Sequential FISH analysis of oocytes and polar bodies reveals aneuploidy mechanisms
• Significance of the clonal and sporadic chromosome abnormalities in non-neoplastic renal tissue
• Single-nucleotide polymorphism array-based characterization of ring chromosome 18
• Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation
• The fetal phenotype of the 18p-syndrome. Report of a male fetus at twenty-one weeks
• Three cell line mosaicism involving structural and numerical abnormalities of chromosome 18 in a 3.5-year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX
• Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation
• Two false negative cases in noninvasive prenatal testing for fetal chromosomal aneuploidies
• Unique mosaicism of structural chromosomal rearrangement: is chromosome 18 preferentially involved?
• Use of chromosome painting for marker chromosome identification in two children with congenital disorders