Disease: Chromosome 4- Trisomy 4p
- 'Pure' partial trisomy 4q26-->q35.2 resulting from a familial unbalanced translocation t(4;10)(q26;q26.3)
- "Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype
- 4p trisomy secondary to paternal translocation t(4p-;15q+)
- 4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization
- A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero
- A complex four-break rearrangement between chromosomes 4 and 13 resulting in a recombinant chromosome 4
- A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations
- A new patient with pure trisomy 4p resulting from isochromosome formation and whole arm translocation
- A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features
- A Patient with Trisomy 4p and Monosomy 10q
- A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay
- 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 third case of de novo partial trisomy 4p
- Anesthesia in a child with 4p trisomy
- Anophthalmia in a retarded girl with partial trisomy 4p and 22 following a maternal translocation, rcp(4;22)(p15.2;q11.2)
- Characterization of a derivative chromosome 17 by fish-technique
- Characterization of marker chromosomes by fish using microdissected probes from old Carnoy-fixed cells: report of two cases
- Classical West "syndrome" phenotype with a subtelomeric 4p trisomy
- Clinical manifestations of trisomy 4p syndrome
- Cloverleaf skull anomaly and de novo trisomy 4p
- Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype
- Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion
- Cytogenetic profile predicts prognosis of patients with clear cell renal cell carcinoma
- De novo case of a partial trisomy 4p and a partial monosomy 8p
- De novo partial trisomy distal 4q: a case report
- Diaphragm myoclonus followed by generalised atonia in a patient with trisomy 4p: unusual semiology in an unusual condition
- Down syndrome childhood acute lymphoblastic leukemia has a unique spectrum of sentinel cytogenetic lesions that influences treatment outcome: a report from the Children's Oncology Group
- Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation
- Endocrine abnormalities in a child with trisomy 4P
- Exceptional complex chromosomal rearrangements in three generations
- Familial 4;18 chromosome translocation resulting in trisomy 4p and monosomy 18p: affected individuals with discordant phenotype
- Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features
- Familial Wolf-Hirschhorn syndrome associated with Rieger anomaly of the eye
- Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates
- First patient with trisomy 21 accompanied by an additional der(4)(:p11 --> q11:) plus partial uniparental disomy 4p15-16
- Genetics of partial trisomies. Trisomy 4p
- Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review
- Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report
- Identification of a de novo 46, XY,4p+ with incomplete Wolf-Hirschhorn syndrome as 46,XY,der(4)t(4;8)(p16.3;p23.1)
- Instability of isochromosome 4p in a child with pure trisomy 4p syndrome features and entire 4q-arm translocation
- Is there a yet unreported unbalanced chromosomal abnormality without phenotypic consequences in proximal 4p?
- Karyotype stability of the DT40 chicken B cell line: macrochromosome variation and cytogenetic mosaicism
- Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations
- Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4
- Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1
- Microarray analysis of unbalanced translocation in Wolf-Hirschhorn syndrome
- Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype
- Mild phenotype and normal gonadal function in females with 4p trisomy due to unbalanced t(X;4)(p22.1;p14)
- Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region
- Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions
- Molecular cytogenetic analysis of de novo partial monosomy 4p (4p16.2-->pter) and partial trisomy 8p (8p23.2-->pter)
- Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome
- Multiple ocular abnormalities associated with trisomy 4p
- Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication
- Neonatal death in cousins with trisomy 10q and monosomy 4p due to a familial translocation
- Nonrandom chromosomal alterations in nickel-transformed Chinese hamster embryo cells
- Ophthalmic findings in partial monosomy 4p (Wolf syndrome) in combination with partial trisomy 10p
- Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features
- Partial trisomy 4p and Brachmann-de Lange syndrome
- PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW
- Partial trisomy 4p resulting from a balanced intrachromosomal insertion, 4(q313p14p16)
- Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization
- Pre- and postnatal diagnosis of trisomy 4 mosaicism
- Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype
- Prenatal Diagnosis and Molecular Cytogenetic Characterization of Copy Number Variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a Fetus with Ultrasound Anomalies: A Case Report and Literature Review
- Prenatal diagnosis for a pedigree affected with Wolf-Hirschhorn syndrome due to a subtle chromosomal translocation
- Prenatal diagnosis of a case with combined Wolf-Hirschhorn syndrome and Jacobsen syndrome
- Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS)
- Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1-->pter) and partial trisomy 10q (10q25.1-->qter)
- Prenatal diagnosis of mosaic 4p- in a fetus with trisomy 21
- Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?
- Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome
- Pure 4p trisomy due to a de novo 4q;22p dicentric translocated chromosome karyotype 46,XX,-22,+t(4;22)(q1200;p13)
- 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
- Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family
- Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion
- Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients
- Suggested assignment of peptidase S (PEPS) to 4p11-4q12 by exclusion using gene dosage, accounting for variability in fibroblasts
- Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes"
- The trisomy 4p syndrome: a case report
- The trisomy 4p syndrome: case report and review
- The use of a specific clinical history in counselling a family with the balanced translocation 46,XY,t(4;12)(p15.2;q21.3): viable offspring with partial monosomy 4p and trisomy 12q
- Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome--another locus for Brachmann-de Lange syndrome on 4p?
- Translocation form of Wolf-Hirschhorn syndrome --assessment of recurrence rate probability
- Trisomy 12p and monosomy 4p: phenotype-genotype correlation
- Trisomy 4: clinical picture, hematology, and survival. Presentation of two cases and review of the literature
- Trisomy 4p and deletion 4p- in a family having translocation, t(4p-; 12p+)
- Trisomy 4p and ocular defects
- Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3)
- Trisomy 4p as result of a maternal translocation t(4;8)(q11;p23)
- Trisomy 4p syndrome
- Trisomy 4p--a new case of congenital myxedema
- Trisomy 4p. Mirror duplication of the short arm of chromosome 4 de novo
- Two cases of partial trisomy 4p and partial trisomy 14q
- Unbalanced 4;6 translocation and progressive renal disease
- Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision
- Wolf-Hirschhorn (4p-) syndrome: prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion
- Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p