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Trisomy 14 mosaicism: a case report and review of the literature.
Lynch MF, Fernandes CJ, Shaffer LG, Potocki L. Lynch MF, et al. J Perinatol. 2004 Feb;24(2):121-3. doi: 10.1038/sj.jp.7211048. J Perinatol. 2004. PMID: 14762456 Review.
Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We describe two previously unreported abnormalities in this condition and delineate physical and psychomotor features and concerns for medical management.
Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We describe tw
Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.
Bregand-White J, Saller DN, Clemens M, Surti U, Yatsenko SA, Rajkovic A. Bregand-White J, et al. Am J Med Genet A. 2016 Sep;170(9):2365-71. doi: 10.1002/ajmg.a.37793. Epub 2016 Jun 10. Am J Med Genet A. 2016. PMID: 27286879 Review.
Our experience in prenatal diagnosis and management of a fetus with multiple anomalies and partial trisomy for the 14q11-q24.2 prompted a comprehensive analysis of the relevant literature. Although complete non-mosaic trisomy 14 is associated with first trime …
Our experience in prenatal diagnosis and management of a fetus with multiple anomalies and partial trisomy for the 14q11-q24.2 prompted a co …
Trisomy 14 and leukemia.
Reddy KS. Reddy KS. Cancer Genet Cytogenet. 1998 Oct 15;106(2):144-51. doi: 10.1016/s0165-4608(98)00053-3. Cancer Genet Cytogenet. 1998. PMID: 9797780 Review.
A total of 11 cases with trisomy 14 as the sole abnormality were found in the database of a large cytogenetic reference laboratory from 1993 to the present. ...This study along with the reported cases strengthens the hypothesis that trisomy 14 is a non …
A total of 11 cases with trisomy 14 as the sole abnormality were found in the database of a large cytogenetic reference labora …
Trisomy 14 Mosaicism: a case without evidence of neurodevelopmental delay and a review of the literature.
Merritt TA, Natarajan G. Merritt TA, et al. Am J Perinatol. 2007 Oct;24(9):563-6. doi: 10.1055/s-2007-986691. Epub 2007 Sep 24. Am J Perinatol. 2007. PMID: 17893842 Review.
Trisomy 14 mosaicism is a rare chromosomal defect with only 20 cases reported in the literature. We describe a child with trisomy 14 mosaicism who has some previously described and some novel phenotypic features. ...
Trisomy 14 mosaicism is a rare chromosomal defect with only 20 cases reported in the literature. We describe a child wi
Trisomy 14 mosaicism in a liveborn male: clinical report and review of the literature.
Kaplan LC, Wayne A, Crowell S, Latt SA. Kaplan LC, et al. Am J Med Genet. 1986 Apr;23(4):925-30. doi: 10.1002/ajmg.1320230407. Am J Med Genet. 1986. PMID: 3515939 Review.
We present the history and results of chromosome analysis of a liveborn male with mosaic trisomy 14 who was initially evaluated for a congenital heart defect. His chromosome complement was 46,XY/47,XY,+14. The phenotype of the patient is similar in many respe …
We present the history and results of chromosome analysis of a liveborn male with mosaic trisomy 14 who was initially e …
Chromosomal abnormalities associated with neural tube defects (I): full aneuploidy.
Chen CP. Chen CP. Taiwan J Obstet Gynecol. 2007 Dec;46(4):325-35. doi: 10.1016/S1028-4559(08)60002-9. Taiwan J Obstet Gynecol. 2007. PMID: 18182338 Free article. Review.
This article provides an overview of chromosomal abnormalities associated with NTDs in embryos, fetuses, and newborn patients, and a comprehensive review of numerical chromosomal abnormalities associated with NTDs, such as trisomy 18, trisomy 13, triploidy, trisomy 9, trisomy 2, …
This article provides an overview of chromosomal abnormalities associated with NTDs in embryos, fetuses, and newborn patients, and a compreh …
Natural history of mosaic trisomy 14 syndrome.
Fujimoto A, Allanson J, Crowe CA, Lipson MH, Johnson VP. Fujimoto A, et al. Am J Med Genet. 1992 Sep 15;44(2):189-96. doi: 10.1002/ajmg.1320440214. Am J Med Genet. 1992. PMID: 1456290 Review.
Trisomy 14 mosaicism produces a distinct phenotype. Among the 13 reported and 2 additional patients, the following findings were present in more than 90%: growth retardation (15/15), psychomotor retardation (10/10), broad nose (13/14), "dysplastic" and/or app
Trisomy 14 mosaicism produces a distinct phenotype. Among the 13 reported and 2 additional patients, the following find
A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.
Ushijima K, Yatsuga S, Matsumoto T, Nakamura A, Fukami M, Kagami M. Ushijima K, et al. J Hum Genet. 2018 Mar;63(3):377-381. doi: 10.1038/s10038-017-0381-z. Epub 2018 Jan 9. J Hum Genet. 2018. PMID: 29311684 Review.
The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenital heart disease, developmental delay, and genitourinary abnormalities. ...In severely short-statured patients with trisomy 14
The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenit …
11 results