Email this article Particularity of genetic counseling in case of a family carriers of structural aberration of chromosome 6
- Authors: Volkov A.N.1, Olennikova R.V.2, Ritenkova O.I.2
-
Affiliations:
- Kemerovo State Medical Academy
- Kemerovo regional clinical hospital
- Issue: Vol 64, No 5 (2015)
- Pages: 106-109
- Section: Articles
- URL: https://ogarev-online.ru/jowd/article/view/1330
- DOI: https://doi.org/10.17816/JOWD645106-109
- ID: 1330
Cite item
Full Text
Abstract
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.
Full Text
##article.viewOnOriginalSite##About the authors
Aleksey Nikolayevich Volkov
Kemerovo State Medical Academy
Email: volkov_alex@rambler.ru
senior research assistant, Central research laboratory
Rimma Vitalievna Olennikova
Kemerovo regional clinical hospitalgeneticist, medical-genetic consultation unit
Oksana Ivanovna Ritenkova
Kemerovo regional clinical hospitallaboratory geneticist, medical-genetic consultation unit
References
- 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.
Supplementary files
