Интерхромосомная и интрахромосомная инсерции с участием хромосомы 2
https://doi.org/10.25557/2073-7998.2018.02.12-17
Аннотация
Ключевые слова
Об авторах
М. Е. МиньженковаРоссия
Ж. Г. Маркова
Россия
Е. Л. Дадали
Россия
Н. В. Шилова
Россия
Список литературы
1. Kang SHL, Show C. Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. Am J Med Genet. 2010;(152A):1111-1126.
2. Van Hemel JО, Eussen HJ. Interchromosomal insertions. Identification of five cases and a review. Hum Genet. 2000;(107):415-432.
3. Gardner RJM, Sutherland GR. Chromosome abnormalities and genetic counseling 4th ed. 2012.
4. Madan K., Menko F.H. Intrachromosomal insertions: a case report and a review. Hum Genet. 1992;(89):1-9.
5. Ardalan A, Prieur M, Choiset A, et аl. Intrachromosomal insertion mimicking a pericentric inversion: molecular cytogenetic characterization of a three break rearrangement of chromosome 20. Am J Med Genet. 2005;(138A):288-293.
6. Madan K, Nieuwint AWM. Reproductive risks for paracentric inversion heterozygotes: inversion or insertion? That is the question. Am J Med Genet. 2002;(107):340-343.
7. Shaffer L. An international system for human cytogenetic nomenclature (ISCN). Int. Karger. 2013.
8. Nowakowska BA, de Leeuw N, Ruivenkamp CAL et аl. Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies Eur J Hum Genet. 2012;(20):166-170.
9. Melotte C, Debrock S, D’Hooghe T, et аl. Preimplantation genetic diagnosis for an insertional translocation carrier. Hum Reprod. 2004;(19):2777-2783.
10. Friedrich U, Houman M. Microdissection of chromosome 2-between-arm intrachromosomal insertion. Eur J Hum Genet. 2000;(8):393-395.
11. Therkelsen AJ, Hultеn M, Jonasson J, et аl. Presumptive direct insertion within chromosome 2 in man. Ann Hum Genet. 1973;(36):367-373.
12. Pai GS, Rogers JF, Sommer A. Identical multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to del(2)(q32) in two sisters with intrachromosomal insertional translocation in their father. Am J Med Genet. 1983;(14):189-195.
13. Manolakos E, Vetro A, Papadopoulou E. Partial trisomy 2p and рartial monosomy 2q аrising from a рaternal intrachromosomal 2q-into-2p between-аrm insertion and рaracentric inversion: molecular cytogenetic characterization of a four-break rearrangement. Cytogenet Genome Res. 2013;(140):12-20.
Рецензия
Для цитирования:
Миньженкова М.Е., Маркова Ж.Г., Дадали Е.Л., Шилова Н.В. Интерхромосомная и интрахромосомная инсерции с участием хромосомы 2. Медицинская генетика. 2018;17(2):12-17. https://doi.org/10.25557/2073-7998.2018.02.12-17
For citation:
Minzhenkova M.E., Markova Z.G., Dadali E.L., Shilova N.V. Interchromosomal and intrachromosomal insertions involving a chromosome 2. Medical Genetics. 2018;17(2):12-17. (In Russ.) https://doi.org/10.25557/2073-7998.2018.02.12-17