• 'Pure' partial trisomy 4q26-->q35.2 resulting from a familial unbalanced translocation t(4;10)(q26;q26.3)
• "Pure" partial trisomy 4q25-qter owing to a de novo 4;22 translocation
• A case of ALL with 4q trisomy
• A case of an interstitial tandem direct duplication of long arm of chromosome 4: 46, XY, dup (4) (q25q31.3) de novo
• 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
• A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability
• A rec(4) dup 4p inherited from a maternal inv(4)(p15q35): case report and review
• A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p)
• A very rare case of trisomy 4q32.3-4q35.2 and trisomy 21q11.2-21q22.11 in a patient with recombinant chromosomes 4 and 21
• An unusual clinical characterization of a male with distal partial trisomy 1q42.1 and monosomy 4q35.1 and review of the literature
• Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature
• Case report: partial trisomy 4q27q35 syndrome
• Chromosome 4q;10q translocations; comparison with different ethnic populations and FSHD patients
• Clinical, cytogenetic, and molecular findings in a fetus with ultrasonic multiple malformations, 4q duplication, and 7q deletion: A case report and literature review
• Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion
• Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation
• Cytogenetic and molecular characterization of partial trisomy 4q and partial monosomy 10q in a patient
• De novo interstitial duplication 4(q28.1q35) associated with choanal atresia
• De novo partial trisomy distal 4q: a case report
• Duplication 4q associated with chronic cholestatic changes in liver biopsy
• Duplication of chromosome 4q: renal pathology of two siblings
• Endocrine abnormalities in a patient with partial trisomy 4q
• Familial cryptic translocation with del 4q34-->qter and dup 12pter-->p13 in sibs with tracheal stenosis: clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in
• Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features
• Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect
• Further contribution to the description of phenotypes associated with partial 4q duplication
• Genetic analysis of a case with Pierre-Robin sequence due to partial 1q trisomy and partial 4q monosomy
• Genetics of partial trisomies. Trisomy 4p
• Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review
• High risk for unbalanced segregation of some reciprocal translocations: a large pedigree containing distal 4q trisomy from t(4;7)(q28;p22)
• Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation
• Instability of isochromosome 4p in a child with pure trisomy 4p syndrome features and entire 4q-arm translocation
• Inverted tandem ("mirror") duplications in human chromosomes: -nv dup 8p, 4q, 22q
• Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy
• Large duplication 4q25-q34 with mild clinical effect
• Leukemia characterized by multiple sub-clones with unbalanced translocations involving different telomeric segments: case report and review of the literature
• Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome
• Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis
• Mosaicism for terminal deletion of 4q
• MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION
• Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q
• Partial 4q duplication due to inherited der(13),t(4;13)(q26;q34)mat in a girl with a deficiency of factor X
• Partial duplication of chromosome 4 in a patient with bilateral ocular coloboma
• Partial duplication of chromosome 4q (q31, q35): Auriculo-acro-renal syndrome
• Partial duplication of the long arm of chromosome 4
• Partial monosomy 2p and partial trisomy 4q due to paternal translocation t(2;4)(p25.1;q31.3)
• Partial trisomy 11q 46, XX, 4q+ by translocation t (4; 11) (q35; q12)
• PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW
• Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies
• Partial trisomy 4q and monosomy 9p resulting from a familial translocation t(4;9)(q27;p24) in a child with choanal atresia
• Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings
• Partial trisomy 4q and preaxial limb defects
• Partial trisomy 4q associated with young-onset dopa-responsive parkinsonism
• Partial trisomy 4q due to a maternal translocation: t(4;18)(q27;q21.31)
• Partial trisomy 4q syndrome: case report and review
• Partial trisomy 4q: a case report
• Partial trisomy 4q: two cases resulting from a familial translocation t(4;18)(q27;p11)
• Partial trisomy of long arm of chromosome 4 as a result of dir dup (4)(q27q31.3) de novo
• Partial trisomy of the long arm of chromosome 1: prenatal diagnosis, clinical evaluation and cytogenetic findings. Case report and review of the literature
• Pathogenesis of congenital diaphragmatic hernia: additional clues regarding the involvement of the endothelin system
• Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings
• Possible responsibility of EDNRA gene triplication, coding for the endothelin 1 ET-A receptor in a case of congenital diaphragmatic hernia
• Pre- and postnatal diagnosis of trisomy 4 mosaicism
• Prenatal Diagnosis of 4q Terminal Deletion and Review of the Literature
• Prenatal diagnosis of a partial trisomy 13q (q14-->qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization
• Prenatal diagnosis of de novo small supernumerary marker chromosome 4q (4q11-q12): A case report
• Pure 4p trisomy due to a de novo 4q;22p dicentric translocated chromosome karyotype 46,XX,-22,+t(4;22)(q1200;p13)
• Pure partial trisomy 4q syndrome in a child with der(9)ins(9;4)(q34.3;q26q35.2)mat
• Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4
• Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features
• Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism
• Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings
• Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number
• Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients
• Terminal 4q deletion and 8q duplication in a patient with CHARGE-like features
• The fetal phenotype of partial trisomy of the long arm of chromosome 4 (4q22----4qter)
• The Hand2 gene dosage effect in developmental defects and human congenital disorders
• The spectrum of 4q- syndrome illustrated by a case series
• Translocation trisomy 4q in 2 siblings as a sequela of paternal balanced reciprocal translocation: t(1;4)(q44;q31)
• Translocation, t(4qminus;13qplus), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation
• Translocation/duplication of 9p onto a duplicated 4q
• Trisomy 17 in a bonobo (Pan paniscus) and deletion of 3q in a lowland gorilla (Gorilla gorilla gorilla): comparison with human trisomy 18 and human deletion 4q syndrome
• Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report of a new patient and review of the literature
• Trisomy 4q syndrome: presentation of a new case and review of the literature
• Trisomy 4q with morning glory disc anomaly
• Trisomy 4q: 46, xy,-11, +der (11), t(4;11) (q27; q25) pat in a child with multiple congenital anomalies
• Two craniosynostotic patients with 11q deletions, and review of 48 cases
• Unbalanced t(4;11)(q32;q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromes