Disease: Chromosome 3 duplication syndrome
- "Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype
- 3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization
- 3q29 duplications: A cohort of 46 patients and a literature review
- 3q29 interstitial microduplication: a new syndrome in a three-generation family
- 3q29 microduplication syndrome: Clinical and molecular description of eleven new cases
- A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysis
- A boy with partial trisomy of chromosome 3q24-q28 from paternal balanced insertion and multiple congenital anomalies
- A case of dup(3q) syndrome
- A girl with a 14.7 Mb 3q26.32-q28 duplication: a new report of 3q duplication syndrome and a literature review
- A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome
- A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome
- A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome
- A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations
- A new case of dup(3q) syndrome due to a pure duplication of 3qter
- A rare chromosomal disorder in a newborn: Trisomy 3q
- A rare chromosome 3 imbalance and its clinical implications
- A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation family
- A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion
- Ambiguous Genitalia: An Unexpected Diagnosis in a Newborn
- Amplification of BCR-ABL and t(3;21) in a patient with blast crisis of chronic myelogenous leukemia
- Characterization of a recurrent translocation t(2;3)(p15-22;q26) occurring in acute myeloid leukaemia
- Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia
- Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements
- Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations
- Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE
- Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2
- Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications
- Copy number variation in fetal alcohol spectrum disorder
- Cytogenetic and molecular characterization of double inversion 3 associated with a cryptic BCR-ABL1 rearrangement and additional genetic changes
- De Novo 1q21.3q22 Duplication Revaluation in a "Cold" Complex Neuropsychiatric Case with Syndromic Intellectual Disability
- De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes
- De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature
- Detection of a 46,XX,der(3)t(3;4)(p25;p16.1) by using chromosome microdissection
- Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report
- Disruption of contactin 4 in three subjects with autism spectrum disorder
- Disruption of Contactin 4 in two subjects with autism in Chinese population
- Duplication of the VHL and IRAK2 genes in a patient with mental retardation/multiple congenital anomalies, epilepsy and ectomorphic habitus
- Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome
- Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome
- Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication
- Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome
- Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis
- Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3)
- Familial presentation of microdeletion and inverted microduplication with array-CGH
- First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization
- Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association)
- Identification of 3q21q26 syndrome by "multipoint" interphase FISH analyses in childhood myeloid leukemia
- Identification of a putative regulatory subunit of a calcium-activated potassium channel in the dup(3q) syndrome region and a related sequence on 22q11.2
- ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population
- Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report
- Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family
- Intrachromosomal 3p insertion as a cause of reciprocal pure interstitial deletion and duplication in two siblings: further delineation of the emerging proximal 3p deletion syndrome
- Lipid anomaly in a child with partial duplication 3p
- Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization
- Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies
- Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome
- Mild Phenotype of Xq Deletion and 3q Duplication Associated with der(X)t(X;3)(q21.1;q22.1) without Loss of XIST Gene
- Molecular characterisation and phenotypic description of two patients with reciprocal chromosomal aberrations in the region of the 3q29 microdeletion/microduplication syndromes
- Mosaic deletion-duplication syndrome of chromosome 3: prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy
- Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q
- Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome
- Mutation analysis of FOXL2 in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
- Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
- Myeloid neoplasms associated with t(3;12)(q26.2;p13) are clinically aggressive, show myelodysplasia, and frequently harbor chromosome 7 abnormalities
- Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype
- Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype
- New chromosomal syndromes
- New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception
- New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry
- Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region
- Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome
- Overexpression of the LSAMP and TUSC7 genes in acute myeloid leukemia following microdeletion/duplication of chromosome 3
- Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features
- Partial duplication of 3q and distal deletion of 10q inherited from a maternal balanced translocation
- Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay
- Partial trisomy 3p24.3 and partial monosomy 5p15.33: case report and a literature review
- Partial trisomy 3q in a child with sacrococcygeal teratoma and Cornelia de Lange syndrome phenotype
- Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome
- Prenatal detection of a 3q29 microdeletion in a fetus with ventricular septum defect: A case report and literature review
- Prenatal diagnosis of a fetus with 1p36 deletion syndrome and 3p26.3p25.2 duplication
- Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia
- Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints
- Prenatal diagnosis of partial trisomy 3q resulting from t(3;14) in a fetus with multiple anomalies including vermian hypoplasia
- Prenatal identification of partial 3q duplication syndrome
- Prenatally diagnosed partial trisomy 3q case with an omphalocele and less severe phenotype
- Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects
- Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p13.33-pter deletion due to familial balanced rearrangement
- Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays
- Recurrent sites for new centromere seeding
- Secondary complex chromosome rearrangement identified by chromosome analysis and FISH subsequent to detection of an unbalanced derivative chromosome 12 by SNP array analysis
- Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service
- Siblings with phenotypic overlap with Toriello-Carey syndrome and complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of the literature and additional evidence for genetic heterogeneity
- Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly
- The emerging microduplication 3q13.31: Expanding the genotype-phenotype correlations of the reciprocal microdeletion 3q13.31 syndrome
- The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations
- The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
- Triplication of 1q in Fanconi anemia
- Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt
- Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome
- Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood