A rare case of mosaic partial tetrasomy 18p presenting with oligomenorrhea and intellectual disability: a case report.

Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case Report.

Co-Occurrence of Urogenital Anomalies and Congenital Heart Disease in a Child With Alpha-Thalassemia Mental Retardation Syndrome Associated With Chromosome 16 Abnormalities due to Partial Monosomy 16p13.3 and Partial Trisomy 16q22.1-q24.3.

Macular and optic nerve hypoplasia in chromosome 2p partial trisomy.

Long-Term Survival Among Children With Trisomy 13 and Trisomy 18 by Cytogenetic Status.

Fork Stalling and Template Switching in a Complex der(6)dn with Duplication of 6q24.3qter and 6p25.3: A Case Report.

Partial 3q tetrasomy: Defining the syndrome, neocentromeres, and an additional case report.

Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype.

Genetic Analysis of 17q Terminal Partial Trisomy.

[Partial trisomy 9p syndrome: Expanding the phenotype].

First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat.

Clinical and molecular cytogenetic findings of cat eye syndrome and a 2-year-old patient with congenital aural atresia and hearing loss.

[Prenatal diagnosis and genetic analysis of two fetuses with Wolf-Hirschhorn syndrome].

Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.

Prenatal detection of chromosome 7q deletion with duplication: A case report and literature review.

Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.

The role of pre- and postnatal investigations in suspected isolated hypospadias.

Diffuse CNS cortical vein malformations with chromosome 17q microduplication: Possible link to SEC14L1.

A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review.

Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q.

Ambiguous Genitalia: An Unexpected Diagnosis in a Newborn.

[Clinical phenotype and genetic analysis of a patient with a heterozygous 6p25.3 deletion and partial trisomy 15q].

17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability.

Genotype-phenotype correlation of deletions and duplications of 4p: case reports and literature review.

Novel duplication of the cell adhesion molecule L1-like gene in an individual with cognitive impairment, tall stature, and obesity: A case report.

Partial trisomy 9p and partial monosomy 7p of an infant inherited from maternal balanced translocation: a case report.

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.

Mosaic 46,XY,der(15)t(6;15)(q25.1;p12)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the unbalanced translocation.

A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome.

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.

A de novo partial trisomy 9p with Dandy-Walker malformation and ventriculomegaly.

De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review.

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.

A novel heptasomy 21 associated with complete loss of heterozygosity and loss of function RUNX1 mutation in acute myeloid leukemia.

Severe recalcitrant hidradenitis suppurativa in a 2-year-old boy with partial trisomy 13.

Complex rearrangements of Y chromosome suggest RPS4Y1 as lymphedema candidate gene.

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.

Copy number variants within AZF region of Y chromosome and their association with idiopathic male infertility in Serbian population.

Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication.

A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study.

Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy.

[Prenatal diagnosis of a rare case with de novo partial 21q(21q22.1→ qter) trisomy syndrome and absent nasal bone].

Prenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result.

Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay.

Performance of a Paired-End Sequencing-Based Noninvasive Prenatal Screening Test in the Detection of Genome-Wide Fetal Chromosomal Anomalies.

Partial Trisomy of Chromosome 8q and Partial Monosomy of Chromosome 6p with Robinow Syndrome-Like Phenotype.

Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report.

Keratoconus in a child with partial trisomy 13.

[Genetic analysis of a case with Pierre-Robin sequence due to partial 1q trisomy and partial 4q monosomy].

Electro-clinical features in epileptic children with chromosome 15q duplication syndrome.

The link between hidradenitis suppurativa and phylloid hypomelanosis in partial trisomy-13 mosaicism: New evidences and further genetic/pathogenetic insights.

Partial 5p Gain and 15q Loss in Three Patients from a Family with a t(5;15)(p13.3;q26.3) Translocation.

A Very Rare Partial Trisomy Syndrome: De Novo Duplication of 16q12.1q23.3 in a Turkish Girl with Developmental Delay and Facial Dysmorphic Features.

Prenatal diagnosis of partial monosomy 2q (2q37.3→qter) and partial trisomy 10q (10q24.31→qter) of paternal origin associated with increased nuchal translucency and abnormal maternal serum screening results.

Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.

Pure 9p duplication syndrome with aplasia of the middle phalanges of the fifth fingers.

Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies.

[Phenotypic and genetic analysis of a boy with a 10p15.3 deletion and partial trisomy 18p syndrome].

Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.

Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of China.

Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.

Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins.

Tetrasomy 21 pter→q21.3 due to an extra +dic(21;21)mat in a severely psychomotor-retarded female patient without Down syndrome phenotype.

Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test.

A case of recurrent epilepsy-associated rosette-forming glioneuronal tumor with anaplastic transformation in the absence of therapy.

Duplications in 19p13.3 are associated with male infertility.

Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.

Prenatal identification of partial 3q duplication syndrome.

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.

[Phenotypic and genetic analysis of a sibpair with partial deletion of SATB2 gene caused by 2q33.1 microdeletion].

A rare case of partial trisomy 8q24.12-q24.3 and partial monosomy of 8q24.3: Prenatal diagnosis and clinical findings.

Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous Recombination.

Investigation of Copy Number Variation by arrayCGH in Turkish Children and Adolescents Diagnosed with Autism Spectrum Disorders.

A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome.

[Clinical application of STR genotyping diagnosis for hydatidiform mole and nonmolar gestation].

Novel ocular findings with 5p deletion and partial trisomy of distal 4q.

Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.

Prenatal Diagnosis of Trisomy 2p due to Terminal 2p Duplication including Interstitial Telomeric Sequences.

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.

[SNP array analysis of three cases with partial 21q trisomy].

Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report.

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 16.

Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome.

A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome.

[Clinical significance of secondary results from non-invasive prenatal testing].

Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.

Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy.

Prenatal diagnosis of inverted duplication deletion 8p syndrome mimicking trisomy 18.

A clinical and molecular analysis of a patient with Emanuel syndrome.

[Improved identification for trisomy 9p and partial trisomy 6q presented in a patient by array-based comparative genomic hybridization].

Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature.

De-novo 'pure' partial trisomy (6)(p22.3→pter): a case report and review of the literature.

Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization.

Prenatal diagnosis and molecular cytogenetic characterization of a de novo unbalanced reciprocal translocation of der(9)t(9;14)(p24.2;q32.11) associated with 9p terminal deletion and 14q distal duplication.

Prenatal diagnosis of partial monosomy 5p (5p15.1→pter) and partial trisomy 7p (7p15.2→pter) associated with cystic hygroma, abnormal skull development, and ventriculomegaly.

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.

A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome.

Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p13.33-pter deletion due to familial balanced rearrangement.

Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q.

Prenatal diagnosis of sub-microscopic partial trisomy 10q using chromosomal microarray analysis in a phenotypically abnormal fetus with normal karyotype.

Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.

[Cytogenetic and molecular characterization of a patient with partial 6q trisomy and 1q monosomy].

[Improved identification for 5p deletion syndrome and partial trisomy 11q presented in a fetus by SNP array].

Characterization of a Complex Chromosomal Rearrangement Involving a de novo Duplication of 9p and 9q and a Deletion of 9q.

Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p.

Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations.

Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature.

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.

625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability.

The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18.

Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.

Turner syndrome presented with tall stature due to overdosage of the SHOX gene.

Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype.

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

Partial trisomy of 11q23.3-q25 inherited from a maternal low-level mosaic unbalanced translocation.

Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: a genotype-phenotype analysis.

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.

Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.

4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization.

A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): a case report.

Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior.

Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3).

The molecular pathogenesis of the myelodysplastic syndromes.