Disease: Chromosome 20- deletion 20p
- 1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review
- 20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder
- A case of 9p-syndrome identified chromosome 20 on chromosome 9p by M-FISH
- A case of a female infant with simultaneous occurrence of de novo terminal deletions on chromosome 14q and 20p
- A deletion of proximal 20p inherited from a normal mosaic carrier mother in a newborn with panhypopituitarism and craniofacial dysmorphism
- A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency
- A Newborn with Panhypopituitarism and Seizures
- A tale of two deletions: a report of two novel 20p13 --> pter deletions
- A Unique Genomic Variant of HDR Syndrome in Newborn
- Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)
- Alagille syndrome and deletion of 20p
- Alagille syndrome in a family with duplication 20p11
- Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20)
- Application of interphase fluorescence in situ hybridization to uncultured amniocytes for differential diagnosis of pseudomosaicism from true mosaicism in mosaic isochromosome 20q detected at amniocentesis
- Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10]
- Characterising the TP53-deleted subgroup of chronic lymphocytic leukemia: an analysis of additional cytogenetic abnormalities detected by interphase fluorescence in situ hybridisation and array-based comparative genomic hybridisation
- Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings
- Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features
- Chromosome 20p Partial <em>De Novo</em> Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies
- Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2
- Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype
- Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies
- De novo partial duplication of 3q and distal deletion of 20p in a 15-week abort us with omphalocele
- Deletion of 20p 11.23----pter with normal growth hormone-releasing hormone genes
- Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization
- Delineation of a region responsible for panhypopituitarism in 20p11.2
- Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype?
- Distribution of abnormal cell clone with deletion of chromosome 20q in marrow cell lineages and apoptosis cells in myelodysplastic syndrome
- Duplication (20p) in association with thyroid carcinoma
- Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?
- Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years
- Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome
- Familial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: report of a new case and review of the literature
- Familial trisomy 20p five cases and two carriers in three generations a review
- FISH studies identify the i(20q-) anomaly as a der(20)del(20)(q11q13)idic(20)(p11)
- Gains, losses, and amplifications of genomic materials in primary gastric cancers analyzed by comparative genomic hybridization
- Genetic alterations in primary gastric carcinomas correlated with clinicopathological variables by array comparative genomic hybridization
- Genetic investigations on 8 patients affected by ring 20 chromosome syndrome
- Genomic changes in primary lesion and lymph node metastases of esophageal squamous cell carcinoma
- Identification of a larger than 3 Mb deletion including JAG1 in an Alagille syndrome patient with a translocation t(3;20)(q13.3;p12.2)
- Identification of novel regions of deletion in familial Wilms' tumor by comparative genomic hybridization
- Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism?
- Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome)
- Intrachromosomal insertion mimicking a pericentric inversion: molecular cytogenetic characterization of a three break rearrangement of chromosome 20
- Linkage analysis and identification of deletion in Alagille syndrome gene
- Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat
- Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family
- Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization
- Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate
- Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome)
- Molecular and cytogenetic characterisation of a small interstitial de novo 20p13-->p12.3 deletion in a patient with severe growth deficit
- Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model
- Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 20p (20p12-p13) encompassing JAG1 and a literature review of prenatal diagnosis of Alagille syndrome
- Mosaic deletion of 20pter due to rescue by somatic recombination
- Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies
- Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism
- Partial trisomy 10p in combination with partial monosomy 20p--a syndrome with muscular hypotonia, psychomotor retardation, dwarfism and craniofacial dysmorphia
- Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature
- Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo interstitial deletion of chromosome 20p
- Prenatal diagnosis of 20p13 microdeletion syndrome
- Quantitative study of a proposed interstitial del (20p 12.2) in multiple endocrine neoplasia (MEN-II)
- SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation
- The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial
- Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation
- Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome
- Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20
- Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs
- Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p