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Quoted phrase not found in phrase index: "Chromosome 16q22 deletion syndrome"
Page 1
Apparent mineralocorticoid excess: type I and type II.
Mantero F, Palermo M, Petrelli MD, Tedde R, Stewart PM, Shackleton CH. Mantero F, et al. Steroids. 1996 Apr;61(4):193-6. doi: 10.1016/0039-128x(96)00012-8. Steroids. 1996. PMID: 8732999 Review.
Very recently (1995) two groups have independently demonstrated the presence of mutations in its gene, located in chromosome 16q22. New and co-workers found a point mutation in exon 6 of two affected siblings of an Iranian family, while White and co-workers i …
Very recently (1995) two groups have independently demonstrated the presence of mutations in its gene, located in chromosome
The AML1 gene: a transcription factor involved in the pathogenesis of myeloid and lymphoid leukemias.
Lo Coco F, Pisegna S, Diverio D. Lo Coco F, et al. Haematologica. 1997 May-Jun;82(3):364-70. Haematologica. 1997. PMID: 9234595 Review.
BACKGROUND AND OBJECTIVE: The AML1 gene was identified in 1991 by cloning the t(8;21) chromosome translocation associated with FAB M2 acute myeloid leukemia (AML). ...STATE OF ART: The normal AML-1 protein forms the alpha-subunit of the heterodimeric TF core binding …
BACKGROUND AND OBJECTIVE: The AML1 gene was identified in 1991 by cloning the t(8;21) chromosome translocation associated with …
Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability.
Chen X, Li H, Chen C, Zhou L, Xu X, Xiang Y, Tang S. Chen X, et al. Mol Diagn Ther. 2018 Dec;22(6):749-757. doi: 10.1007/s40291-018-0358-4. Mol Diagn Ther. 2018. PMID: 30259421
The results revealed 87 CNVs in 45 cases, including 16 pathogenic CNVs in 12 individuals, with a diagnostic yield of 20.0% (12/60). We found large deletions at 16q22.2q23.1 and 3q24q25.32 in two patients, respectively, in whom specific syndromes had not been …
The results revealed 87 CNVs in 45 cases, including 16 pathogenic CNVs in 12 individuals, with a diagnostic yield of 20.0% (12/60). We found …
Case of chronic eosinophilic leukemia with deletion of chromosome 16 and hepatitis C.
Kamineni P, Baptiste A, Hassan M, Dawkins FW, Zaidi S, Tefferi A, Lindsey M, Taddesse-Heath L. Kamineni P, et al. J Natl Med Assoc. 2006 Aug;98(8):1356-60. J Natl Med Assoc. 2006. PMID: 16916138 Free PMC article.
Partial deletion of the long arm of chromosome 16 is a cytogenetic abnormality first reported 20 years ago in patients with acute myeloid leukemia associated with bone marrow eosinophilia (AML-M4Eo). ...Bone marrow biopsy showed clonal cytogenetic abnormality consis …
Partial deletion of the long arm of chromosome 16 is a cytogenetic abnormality first reported 20 years ago in patients with ac …
Benign chronic neutropenia with abnormalities involving 16q22, affecting mother and daughter.
Glasser L, Meloni-Ehrig A, Joseph P, Mendiola J. Glasser L, et al. Am J Hematol. 2006 Apr;81(4):262-70. doi: 10.1002/ajh.20550. Am J Hematol. 2006. PMID: 16550514 Free article.
Some possible candidate genes contributing to the pathogenesis of the neutropenia are discussed. Chromosome abnormalities involving the 16q22 breakpoint have been observed in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). ...Another point to …
Some possible candidate genes contributing to the pathogenesis of the neutropenia are discussed. Chromosome abnormalities involving t …
Chromosome 16 abnormalities associated with myeloid malignancies.
Campbell LJ, Challis J, Fok T, Garson OM. Campbell LJ, et al. Genes Chromosomes Cancer. 1991 Jan;3(1):55-61. doi: 10.1002/gcc.2870030110. Genes Chromosomes Cancer. 1991. PMID: 2069909
Vincent's Hospital over a 6-year period were found to have an inversion abnormality of chromosome 16 (25 patients) or t(16;16) (1 patient). Only 16 patients had all the features of M4Eo, while the other 10 patients had diagnoses of M2, M4, M5, RAEB, and RAEB-T; six of thes …
Vincent's Hospital over a 6-year period were found to have an inversion abnormality of chromosome 16 (25 patients) or t(16;16) (1 pat …
Novel chromosome 16 abnormality--der(16)del(16) (q13)t(16;21)(p11.2;q22)--associated with acute myeloid leukemia.
Sharma P, Watson N, Robson L, Gallo J, Smith A. Sharma P, et al. Cancer Genet Cytogenet. 1999 Aug;113(1):25-8. doi: 10.1016/s0165-4608(99)00008-4. Cancer Genet Cytogenet. 1999. PMID: 10459342
Two breaks had occurred; one in the short arm at 16p11, with translocation of the segment distal to this onto chromosome 21q, and the other in the long arm at 16q22 with subsequent deletion of the segment from 16q22-->qter. Fluorescence in situ hybr …
Two breaks had occurred; one in the short arm at 16p11, with translocation of the segment distal to this onto chromosome 21q, and the …
Chromosome change at 16q22 in nonlymphocytic leukemia: clinical implication on leukemia patients with inv(16) versus del(16).
Ohyashiki K, Ohyashiki JH, Kondo M, Ito H, Toyama K. Ohyashiki K, et al. Leukemia. 1988 Jan;2(1):35-40. Leukemia. 1988. PMID: 3422328
All but one of the de novo M2 and M4 leukemia patients with inv(16)(p13q22) showed initial bone marrow eosinophilia (greater than 5%) with basophilic granules. The remaining 11 showed deletion of the long arm of a chromosome no. 16 [del(16)(q22 or q23)]. ...The rema …
All but one of the de novo M2 and M4 leukemia patients with inv(16)(p13q22) showed initial bone marrow eosinophilia (greater than 5%) with b …
Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion.
Zhang S, Li FY, Bass HN, Pursley A, Schmitt ES, Brown BL, Brundage EK, Mardach R, Wong LJ. Zhang S, et al. Mol Genet Metab. 2010 Jan;99(1):53-7. doi: 10.1016/j.ymgme.2009.09.003. Mol Genet Metab. 2010. PMID: 19815440
Thymidine kinase 2 (TK2), encoded by the TK2 gene on chromosome 16q22, is one of the deoxyribonucleoside kinases responsible for the maintenance of mitochondrial deoxyribonucleotide pools. ...Sequence analysis confirmed that the deletion spans c …
Thymidine kinase 2 (TK2), encoded by the TK2 gene on chromosome 16q22, is one of the deoxyribonucleoside kinases respon …
Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1.
Yamamoto T, Dowa Y, Ueda H, Kawataki M, Asou T, Sasaki Y, Harada N, Matsumoto N, Matsuoka R, Kurosawa K. Yamamoto T, et al. Am J Med Genet A. 2008 Jun 15;146A(12):1575-80. doi: 10.1002/ajmg.a.32204. Am J Med Genet A. 2008. PMID: 18470894
When the deletion in this patient and other reported patients are compared, the 16q22 region appears to be the smallest region for 16q deletion syndrome. Since over 50% of patients with the deletion of 16q22 region have congenital heart d …
When the deletion in this patient and other reported patients are compared, the 16q22 region appears to be the smallest region …