Tetrasomy

01/01/2012 - "Cytogenetic study showed 4 related clones: one with trisomy 8 and extra material on the short arms of chromosome 4; a second line with tetrasomy of chromosome 8, add(4)(p16); the third clone had the same alterations as the previous and deletion of chromosome 3 at q11; the fourth line had tetrasomy 8 and translocation t(3;5)(q25;q35). "
01/01/2013 - "In addition, our case supports the hypothesis of a step-wise clonal evolution from trisomy 8 to tetrasomy 8 in AML. "
01/01/2012 - "To our knowledge this is the first HS case showing chromosome 8 trisomy and tetrasomy and the other described alterations."
03/01/2010 - "Numerous abnormalities of chromosome 8 (trisomy or tetrasomy) have been identified in association with LC. "
01/01/2010 - "Extramedullary relapse of AML with t(9;11)(p22;q23) associated with clonal evolution from trisomy 8 into tetrasomy 8."

01/01/2015 - "Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. "
06/01/2013 - "The combined results from cytogenetic and array-CGH analyses showed tetrasomy 14p13q13.1 and results from the QF-PCR point to formation of the marker chromosome in the maternal meiosis. "
04/01/2012 - "Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations."
02/01/2012 - "If a diagnosis of mosaic 5p tetrasomy is suspected, karyotype of cultured fibroblasts in addition to routine cytogenetic analysis, to look for this marker chromosome is warranted."
11/15/2002 - "The presence of this marker chromosome in our patient results in tetrasomy 15q25.3 --> qter. "

01/01/1997 - "Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children)."
07/01/2015 - "Pallister-Killian syndrome is a rare, sporadic condition caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). "
06/01/2015 - "Pallister-Killian syndrome (PKS) is a multi-system developmental disorder caused by tetrasomy 12p that exhibits tissue-limited mosaicism. "
12/01/2014 - "Since many of computer-predicted miR-1244 target genes play roles in transcriptional regulation, overexpression of miR-1244 due to tetrasomy 12p may contribute to the pleiotropic phenotype of Pallister-Killian syndrome by modulating its downstream target genes including MEIS2 and UQCRB. "
12/01/2012 - "Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome."

11/01/2007 - "Because der(22) syndrome and cat eye syndrome (partial tetrasomy of 22q11) share a similar region of extra dosage on 22q11 and both typically manifest an anorectal phenotype, a dosage-sensitive gene for anorectal anomalies may be present in this locus."
10/15/2007 - "SMCs(22) that result in tri- or tetrasomy of band 22q11.2 are associated with Cat-eye syndrome (CES), a syndrome of variable penetrance and affectation. "
01/01/2006 - "First marker, an inverted duplication of chromosome 22q11.2 corresponding to tetrasomy of this chromosome region was recognized in a child with partial cat eye syndrome. "
01/01/1994 - "Cat eye syndrome is associated with a partial tetrasomy 22q and can be inherited. "
02/01/1984 - "Cat eye syndrome owing to tetrasomy 22pter leads to q11."

12/01/2005 - "Molecular cytogenetic analysis and molecular DNA polymorphism study demonstrated that this extra SMC is an NMC containing an inverted duplication of the distal long arm of chromosome 15 (tetrasomy 15q25-->qter) which originated paternally, i.e. "
01/01/2014 - "Tetrasomy of chromosomes 3, 7 and 17, and DNA loss at 9p21 were the most frequently observed forms of CNV. "
03/01/2012 - "To determine the sensitivity of our array CGH platform to tetrasomy 12p mosaicism, dilutions of DNA from both the child's skin fibroblasts and a PKS cell line were analyzed. "
12/15/2007 - "Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA."
01/01/2006 - "Despite a normal karyotype on peripheral lymphocytes and the unavailability of cultured fibroblasts, a tetrasomy 12p was identified on pulmonary DNA extracted from a postmortem biopsy, by use of comparative genomic hybridization (CGH) and confirmed by CGH array. "

07/01/2010 - "Monosomy occurred most frequently (75%, 18/24), followed by trisomy (17%, 4/24); nullisomy and tetrasomy were less frequent. "
02/01/2006 - "In addition, a unique chromosomal alteration involving a significant non-random loss of Chromosome 17 specific to near-tetraploid aneusomic cells (trisomy 17 and tetrasomy 3) was observed. "
08/01/1992 - "It appears to be cytogenetically different from the cortical papillary kidney tumour which exhibits trisomy 17 and tri- or tetrasomy 7, and from the non-papillary renal cell carcinoma which characteristically presents deletion of the short arm of chromosome 3."
07/01/1993 - "Cytogenetic and molecular genetic studies allow the common renal cell neoplasms to be separated into two main types: (1) Nonpapillary renal cell carcinomas (RCC) which have a loss of 3p13-pter sequences and (2) Papillary renal cell tumors having tri- or tetrasomies of chromosome 7 and trisomy 17. "
03/01/1991 - "In addition, trisomy or tetrasomy of chromosome 17 was seen in 6 (5 with normal chromosome 3 and one with 3p deletion), trisomy or more copies of chromosome 7 in 8 (4 with 3p deletion, 2 with trisomy or tetrasomy 17, and 2 with trisomy alone), and trisomy 12 in 3 (all with trisomy 17) tumors. "

06/01/2011 - "We report on an infant with tetrasomy of 5q35.2-5q35.3, an interstitial triplication on one chromosome and normal complement on the other. "
01/01/2011 - "The phenotype of the patient is compared with that of patients with tetrasomy 15q11.2q13.3, trisomy 5q35.3, and trisomy 18p11.2. Our study demonstrates that aCGH and FISH analyses are powerful tools, which complement the conventional cytogenetic analysis for the identification of SMCs."

07/01/2010 - "Genetic study revealed a 48,XXXX karyotype with a maternal origin of the X-tetrasomy. "
07/01/2010 - "[X tetrasomy (48,XXXX karyotype) in a girl with altered behavior]."

09/01/2012 - "Tetrasomy of 15q26 likely results in a distinct syndrome as the patients with tetrasomy 15q26 share a strikingly more consistent phenotype than do the patients with Shprintzen-Goldberg syndrome, who show remarkable clinical variation."
09/01/2012 - "Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?"
09/01/2012 - "The aim of this study was to characterize the clinical phenotype of patients with tetrasomy of the distal 15q chromosome in the form of a neocentric marker chromosome and to evaluate whether the phenotype represents a new clinical syndrome or is a phenocopy of Shprintzen-Goldberg syndrome. "

12/01/2012 - "The PKS phenotype has also often been observed in individuals with complete or partial duplications of 12p (trisomy 12p rather than tetrasomy 12p) as the result of an interstitial duplication or unbalanced translocation. "
06/01/2006 - "Cases of tetrasomy 12p and trisomy 12p are known to be associated with specific phenotypic abnormalities well described in the literature. "
12/15/2003 - "The tetrasomy 12p was due to an i12p, the trisomy 12p to a single 12p marker. "
12/01/1995 - "A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. "
08/01/2012 - "We discuss the possible sequence of events leading to the cytogenetic findings and compare the clinical phenotype presented in the affected twin with other cases of trisomy 12p and tetrasomy 12p (Pallister-Killian syndrome)."

02/01/1996 - "Similarly to other cases with tetrasomy 8, the patient showed monocytic involvement and poor response to chemotherapy. "
10/01/1995 - "Similarly to rare cases with tetrasomy 8, the patient showed monocytic involvement and was refractory to cytotoxic chemotherapy. "
12/01/1989 - "Common abnormality was identified as trisomies of No. 1, 3, 5, 16, 21 chromosomes, tetrasomies of No. 10, 19, 20 chromosomes, and 4q+, 7q+, 14p+. Multimodal chemotherapy was successful to induce the patient promptly into complete remission. "

08/01/2005 - "Patients with tetrasomy 8 have a poor prognosis, and only 1 out of 33 patients was free of disease 3 years after autologous bone marrow transplantation. "

02/01/2003 - "Compared with trisomy and tetrasomy 8, significant features included reduced median survival (90 days), treatment refractoriness (even with transplantation), monocytic differentiation, trilineage dysplasia, and radiation or toxin exposure. "

01/01/2015 - "Bone marrow analysis indicated myelodysplastic syndrome RAEB 1 while cytogenetic finding showed tetrasomy 8. It was recommended that the patient undergo local radiotherapy of skin lesions, but she refused and was lost to follow-up. "