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Page 1
Tetrasomy 18p Case Report.
He Y, Liao JJ, Liu YL, Wen J, Lou JW. He Y, et al. Clin Lab. 2020 Jan 1;66(1). doi: 10.7754/Clin.Lab.2019.190640. Clin Lab. 2020. PMID: 32013361
BACKGROUND: Tetrasomy 18p is a rare disorder. It is known to affect about 250 families worldwide. Tetrasomy 18p is also the most common type of isochromosome. Here we report a de novo tetrasomy 18p. METHODS: The copy number variation of t …
BACKGROUND: Tetrasomy 18p is a rare disorder. It is known to affect about 250 families worldwide. Tetrasomy 18p …
Eye, Ocular Adnexa, and Facial Manifestations of Tetrasomy 18p.
Saadeh-Jackson S, King K, Al Saif H, Jackson-Cook C, Schleede J, Couser NL. Saadeh-Jackson S, et al. J Pediatr Ophthalmol Strabismus. 2021 Nov-Dec;58(6):e44-e48. doi: 10.3928/01913913-20210826-01. Epub 2021 Nov 1. J Pediatr Ophthalmol Strabismus. 2021. PMID: 34851787
Tetrasomy 18p is often the result of an additional isochromosome for the short arm of chromosome 18. ...A systematic review of the literature in PubMed was conducted to summarize the reported eye, ocular adnexa, and distinctive facial features in individuals with co …
Tetrasomy 18p is often the result of an additional isochromosome for the short arm of chromosome 18. ...A systematic review of …
Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report.
Peng C, LinPeng S, Bu X, Jiang X, Hu L, He J, Zhou S. Peng C, et al. Mol Cytogenet. 2022 Jun 27;15(1):25. doi: 10.1186/s13039-022-00602-4. Mol Cytogenet. 2022. PMID: 35761312 Free PMC article.
BACKGROUND: Tetrasomy 18p syndrome is a rare chromosomal disorder that is caused by the presence of isochromosome 18p. Most tetrasomy 18p cases are de novo cases and maternal origin of trisomy 18p is a rare condition. ...
BACKGROUND: Tetrasomy 18p syndrome is a rare chromosomal disorder that is caused by the presence of isochromosome 18p. Most …
Sibs with tetrasomy 18p born to a mother with trisomy 18p.
Takeda K, Okamura T, Hasegawa T. Takeda K, et al. J Med Genet. 1989 Mar;26(3):195-7. doi: 10.1136/jmg.26.3.195. J Med Genet. 1989. PMID: 2651671 Free PMC article. Review.
Although one quite similar family has been reported, to the best of our knowledge there have been no reports of families in which two daughters with tetrasomy 18p syndrome have been born to a mother with trisomy 18p with isochromosomes....
Although one quite similar family has been reported, to the best of our knowledge there have been no reports of families in which two daught …
Tetrasomy 18p: report of cognitive and behavioral characteristics.
O'Donnell L, Soileau BT, Sebold C, Gelfond J, Hale DE, Cody JD. O'Donnell L, et al. Am J Med Genet A. 2015 Jul;167(7):1474-82. doi: 10.1002/ajmg.a.37036. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900901
Our purpose was to describe intellectual and behavioral characteristics of persons with tetrasomy 18p. This is a more detailed investigation into the cognitive and behavioral characteristics of our previously reported tetrasomy 18p cohort of 43 plus si …
Our purpose was to describe intellectual and behavioral characteristics of persons with tetrasomy 18p. This is a more detailed …
Constitutional tetrasomy 18p.
Bakshi SR, Brahmbhatt MM, Trivedi PJ, Chudoba I. Bakshi SR, et al. Indian Pediatr. 2006 Apr;43(4):357-60. Indian Pediatr. 2006. PMID: 16651677 Free article.
We present here the first case of constitutional tetrasomy 18p from India. A 3 year old female with developmental delay and dysmorphic features revealed 47,XX,+mar karyotype. ...
We present here the first case of constitutional tetrasomy 18p from India. A 3 year old female with developmental delay and dy …
Tetrasomy 18p Initially Misdiagnosed as Cerebral Palsy in an Adult Patient.
Mehkri Y, Jules R, Elfasi A, Shuhaiber H. Mehkri Y, et al. Cureus. 2021 Nov 30;13(11):e20053. doi: 10.7759/cureus.20053. eCollection 2021 Nov. Cureus. 2021. PMID: 34993029 Free PMC article.
Tetrasomy 18p is a rare genetic condition characterized by a supernumerary 18p isochromosome with two copies of the p arm of chromosome 18 causing patients to have an extra chromosome. ...The most commonly reported manifestations of this condition are developmental …
Tetrasomy 18p is a rare genetic condition characterized by a supernumerary 18p isochromosome with two copies of the p arm of c …
Tetrasomy 18p: case report and review of literature.
Bawazeer S, Alshalan M, Alkhaldi A, AlAtwi N, AlBalwi M, Alswaid A, Alfadhel M. Bawazeer S, et al. Appl Clin Genet. 2018 Feb 8;11:9-14. doi: 10.2147/TACG.S153469. eCollection 2018. Appl Clin Genet. 2018. PMID: 29467581 Free PMC article.
Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. ...We compared our case with previously reported ones in the literature. Clinicians should consider tetrasomy 18p in any individual with dysmorphic features an …
Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. ...We compared our case with prev …
Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test.
Tolva G, Silipigni R, Quarenghi A, Vergani P, Guerneri S, Milani D. Tolva G, et al. J Obstet Gynaecol Res. 2019 Mar;45(3):705-708. doi: 10.1111/jog.13873. Epub 2018 Dec 13. J Obstet Gynaecol Res. 2019. PMID: 30549132
Genetic tests, performed after birth, revealed the presence of a tetrasomy 18p with an extra isochromosome 18p. Our report wants to underline the importance of an invasive procedure and consequent cytogenetic analysis in case of NIPT results indicating autosomal tri …
Genetic tests, performed after birth, revealed the presence of a tetrasomy 18p with an extra isochromosome 18p. Our report wan …
Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals.
Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, Schatz M, White WA, Perry B, Reinker K, O'Donnell L, Lancaster J, Li J, Hasi M, Hill A, Pankratz L, Hale DE, Cody JD. Sebold C, et al. Am J Med Genet A. 2010 Sep;152A(9):2164-72. doi: 10.1002/ajmg.a.33597. Am J Med Genet A. 2010. PMID: 20803640
The purpose of this study was to more fully describe tetrasomy 18p at both the genotypic and the phenotypic levels. Array CGH was performed on 43 samples from individuals with tetrasomy 18p diagnosed via routine karyotype. ...Lastly, a series of clinic …
The purpose of this study was to more fully describe tetrasomy 18p at both the genotypic and the phenotypic levels. Array CGH …
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