电邮这篇文章 Particularity of genetic counseling in case of a family carriers of structural aberration of chromosome 6
- 作者: Volkov A.N.1, Olennikova R.V.2, Ritenkova O.I.2
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隶属关系:
- Kemerovo State Medical Academy
- Kemerovo regional clinical hospital
- 期: 卷 64, 编号 5 (2015)
- 页面: 106-109
- 栏目: Articles
- URL: https://medbiosci.ru/jowd/article/view/1330
- DOI: https://doi.org/10.17816/JOWD645106-109
- ID: 1330
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详细
We discuss the case of a family carriers of structural chromosomal aberration del(6)(q24) in two generations. For the first time revealed in 2 year old girl, the aberration has become a reason for family medical and genetic examination, including prenatal cytogenetic diagnosis. The results of clinical and genetic testing of the proband were compared with published data.
作者简介
Aleksey Volkov
Kemerovo State Medical Academy
Email: volkov_alex@rambler.ru
senior research assistant, Central research laboratory
Rimma Olennikova
Kemerovo regional clinical hospitalgeneticist, medical-genetic consultation unit
Oksana Ritenkova
Kemerovo regional clinical hospitallaboratory geneticist, medical-genetic consultation unit
参考
- Баранов В. С., Кузнецова Т. В. Цитогенетика эмбрионального развития человека. СПб.: Изда-во Н-Л; 2007.
- McLeod D. R., Fowlow S. B., Robertson A., Samcoe D., Burgess I., Hoo J. J. Chromosome 6q deletions: a report of 2 additional cases and a review of the liter. Am J of Med Gen. 1990; 35 (1): 79-84.
- Meng J. et al. Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3. American Journal of Medical Genetics 1992; 43 (4): 747-50.
- Nair S. et al. Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report. Indian J Hum Genet. 2012; 18 (1):127-9.
- Schinzel A. Сatalogue of unbalanced chromosome aberrations in man. Berlin, New York: De Gruyter; 2001.
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