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95 results

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Page 1
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.
Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. Tartaglia N, et al. Acta Paediatr. 2011 Jun;100(6):851-60. doi: 10.1111/j.1651-2227.2011.02235.x. Epub 2011 Apr 8. Acta Paediatr. 2011. PMID: 21342258 Free PMC article. Review.
Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. ...
Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. ...
A review of trisomy X (47,XXX).
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L. Tartaglia NR, et al. Orphanet J Rare Dis. 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. Orphanet J Rare Dis. 2010. PMID: 20459843 Free PMC article. Review.
Differential diagnosis prior to definitive karyotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome mosaicism. Genetic counseling is recommended. ...
Differential diagnosis prior to definitive karyotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome mosaic …
Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.
Stubbins RJ, Korotev S, Godley LA. Stubbins RJ, et al. Curr Hematol Malig Rep. 2022 Aug;17(4):94-104. doi: 10.1007/s11899-022-00663-7. Epub 2022 Jun 8. Curr Hematol Malig Rep. 2022. PMID: 35674998 Review.
Peripheral blood shows a small population of lymphocytes with a chronic lymphocytic leukemia immunophenotype, and FISH demonstrates a complex karyotype: gain of one to two copies of IGH and FGFR3; gain of two copies of CDKN2C at 1p32.3; gain of two copies of CKS1B at 1q21; tet …
Peripheral blood shows a small population of lymphocytes with a chronic lymphocytic leukemia immunophenotype, and FISH demonstrates a comple …
Diagnosis and clinical delineation of mosaic tetrasomy 5p.
Blakey-Cheung S, Parker P, Schlaff W, Monseur B, Keppler-Noreuil K, Al-Kouatly HB. Blakey-Cheung S, et al. Eur J Med Genet. 2020 Jan;63(1):103634. doi: 10.1016/j.ejmg.2019.02.006. Epub 2019 Feb 21. Eur J Med Genet. 2020. PMID: 30797979 Review.
BACKGROUND: Tetrasomy 5p is a rare chromosomal abnormality. Of the 14 reports, most document mosaic tetrasomy 5p resulting from a supernumerary marker chromosome or isochromosome. ...RESULTS: Of the 15 included cases, 13 exhibited mosaic tetrasomy and two had …
BACKGROUND: Tetrasomy 5p is a rare chromosomal abnormality. Of the 14 reports, most document mosaic tetrasomy 5p resulting fro …
A very rare case of a newborn with tetrasomy 9p and literature review.
Süleyman M, Oğuz S, Kaykı G, Çelik HT, Şimsek-Kiper PÖ, Utine GE, Yiğit Ş. Süleyman M, et al. Turk J Pediatr. 2022;64(1):171-178. doi: 10.24953/turkjped.2021.685. Turk J Pediatr. 2022. PMID: 35286047 Free article. Review.
BACKGROUND: Tetrasomy 9p is a rare genetic condition which usually results from a supernumerary isochromosome derived from the short arm of chromosome 9. Phenotypic findings include multiple congenital anomalies, facial dysmorphism, growth and developmental delays, and als …
BACKGROUND: Tetrasomy 9p is a rare genetic condition which usually results from a supernumerary isochromosome derived from the short …
Mosaic tetrasomy 9p at amniocentesis: prenatal diagnosis, molecular cytogenetic characterization, and literature review.
Chen CP, Wang LK, Chern SR, Wu PS, Chen YT, Kuo YL, Chen WL, Lee MS, Wang W. Chen CP, et al. Taiwan J Obstet Gynecol. 2014 Mar;53(1):79-85. doi: 10.1016/j.tjog.2013.12.002. Taiwan J Obstet Gynecol. 2014. PMID: 24767652 Free article. Review.
The fetal blood cells had 32.5% (13/40 cells) mosaicism for tetrasomy 9p. CONCLUSION: Mosaic tetrasomy 9p at amniocentesis can be associated with fetal ascites and hydrops fetalis. The mosaic level of tetrasomy 9p may decrease after long-term tissue culture i …
The fetal blood cells had 32.5% (13/40 cells) mosaicism for tetrasomy 9p. CONCLUSION: Mosaic tetrasomy 9p at amniocentesis can …
Neuroimaging findings in Pallister-Killian syndrome.
Barkovich EJ, Lateef TM, Whitehead MT. Barkovich EJ, et al. Neuroradiol J. 2018 Aug;31(4):403-411. doi: 10.1177/1971400917744798. Epub 2017 Dec 20. Neuroradiol J. 2018. PMID: 29260614 Free PMC article. Review.
Cognitive and medical features of chromosomal aneuploidy.
Hutaff-Lee C, Cordeiro L, Tartaglia N. Hutaff-Lee C, et al. Handb Clin Neurol. 2013;111:273-9. doi: 10.1016/B978-0-444-52891-9.00030-0. Handb Clin Neurol. 2013. PMID: 23622175 Review.
Sex chromosome aneuploidy conditions such as Klinefelter syndrome (47,XXY), XYY, trisomy X, and Turner syndrome (45,X), in addition to less frequently occurring tetrasomy and pentasomy conditions are also covered. Treatment recommendations and suggestions for future resear …
Sex chromosome aneuploidy conditions such as Klinefelter syndrome (47,XXY), XYY, trisomy X, and Turner syndrome (45,X), in addition to less …
Pallister-Killian syndrome: Review of fetal phenotype.
Thakur S, Gupta R, Tiwari B, Singh N, Saxena KK. Thakur S, et al. Clin Genet. 2019 Jan;95(1):79-84. doi: 10.1111/cge.13381. Epub 2018 Jun 29. Clin Genet. 2019. PMID: 29790157 Review.
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
El Khattabi L, Jaillard S, Andrieux J, Pasquier L, Perrin L, Capri Y, Benmansour A, Toutain A, Marcorelles P, Vincent-Delorme C, Journel H, Henry C, De Barace C, Devisme L, Dubourg C, Demurger F, Lucas J, Belaud-Rotureau MA, Amiel J, Malan V, De Blois MC, De Pontual L, Lebbar A, Le Dû N, Germain DP, Pinard JM, Pipiras E, Tabet AC, Aboura A, Verloes A. El Khattabi L, et al. Am J Med Genet A. 2015 Jun;167(6):1252-61. doi: 10.1002/ajmg.a.36932. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25847481 Free article. Review.
Tetrasomy 9p is a generic term describing the presence of a supernumerary chromosome incorporating two copies of the 9p arm. ...The most recurrent breakpoints, defined by conventional cytogenetics, are 9p10, 9q12 and 9q13. We report on 12 new patients with tetrasomy …
Tetrasomy 9p is a generic term describing the presence of a supernumerary chromosome incorporating two copies of the 9p arm. ...The m …
95 results