Cytogenetic Analysis of 5572 Patients Referred for Suspected Chromosomal Abnormalities in Morocco

被引:11
作者
Aboussair, Nisrine [1 ,2 ]
Jaouad, Imane Cherkaoui [1 ]
Dequaqui, Souad Cherkaoui [1 ]
Sbiti, Aziza [1 ]
Elkerch, Fatiha [1 ]
Yahya, Benbouchta [1 ]
Natiq, Abdelhafid [1 ]
Sefiani, Abdelaziz [1 ,3 ]
机构
[1] Natl Inst Hlth, Dept Med Genet, Rabat, Morocco
[2] Cadi Ayyad Univ, Dept Genet, Marrakech Med Sch, Mohammed VI Univ Hosp Marrakech, Marrakech, Morocco
[3] Mohamed V Univ, Human Genom Lab, Rabat, Morocco
关键词
GENETIC-DISORDERS; ABERRATIONS; POPULATION; ANOMALIES;
D O I
10.1089/gtmb.2011.0265
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Objectives: The aim of this study was (1) to identify the profile of patients being referred for cytogenetic analysis in Morocco, (2) to determine the prevalence and type of chromosomal abnormalities in the different groups, (3) to compare the results with those of similar studies done in other countries. Material and Methods: 5572 patients ranging from newborns to 50 years of age were referred to the department of medical genetics, of the Moroccan National Institute of Health between 1993 and 2010, with a variety of clinical disorders such as mental retardation; multiple congenital malformations; clinical features of Down syndrome, Turner's syndrome, and Klinefelter syndrome; ambiguous sex; sterility; amenorrhea; recurrent miscarriage; and chromosome breakage syndromes. Results: Of the 5572 cases studied, 4068 (73%) had a normal karyotype and 1504 (27%) had chromosomal abnormalities. Various types of chromosomal anomalies were found. The most common autosomal abnormalities were Down syndrome (1095 cases) and Turner's syndrome (122 cases) in abnormalities of sex chromosomes. Conclusion: This study compares the results of cytogenetic analysis of chromosomal abnormalities in the Moroccan population with other countries and research centers. This comparison will help Moroccan clinicians to determine the priority for requesting a cytogenetic analysis in individual cases.
引用
收藏
页码:569 / 573
页数:5
相关论文
共 26 条
  • [1] Al-Awadi S.A., 1985, J KUWAIT MED ASSOC, V19, P269
  • [2] Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis
    Baala, Lekbir
    Briault, Sylvain
    Etchevers, Heather C.
    Laumonnier, Frederic
    Natiq, Abdelhafid
    Amiel, Jeanne
    Boddaert, Nathalie
    Picard, Capucine
    Sbiti, Aziza
    Asermouh, Abdellah
    Attie-Bitach, Tania
    Encha-Razavi, Ferechte
    Munnich, Arnold
    Sefiani, Abdelaziz
    Lyonnet, Stanislas
    [J]. NATURE GENETICS, 2007, 39 (04) : 454 - 456
  • [3] Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey
    Balkan, M.
    Akbas, H.
    Isi, H.
    Oral, D.
    Turkyilmaz, A.
    Kalkanli, S.
    Simsek, S.
    Fidanboy, M.
    Alp, M. N.
    Gedik, A.
    Budak, T.
    [J]. GENETICS AND MOLECULAR RESEARCH, 2010, 9 (02) : 1094 - 1103
  • [4] 44 PROBANDS WITH AN ADDITIONAL MARKER CHROMOSOME
    BUCKTON, KE
    SPOWART, G
    NEWTON, MS
    EVANS, HJ
    [J]. HUMAN GENETICS, 1985, 69 (04) : 353 - 370
  • [5] Duarte A C, 2004, Genet Mol Res, V3, P303
  • [6] Dutrillaux B., 1981, La Pratique de L'analyse Chromosomique
  • [7] Gardner RJM, 1996, CHROMOSOMAL ABNORMAL
  • [8] Goud MT, 2005, SAUDI MED J, V26, P1951
  • [9] Chromosome abnormalities in a referred population for suspected chromosomal aberrations: A report of 4117 cases
    Kim, SS
    Jung, SC
    Kim, HJ
    Moon, HR
    Lee, JS
    [J]. JOURNAL OF KOREAN MEDICAL SCIENCE, 1999, 14 (04) : 373 - 376
  • [10] Kumar P, 2001, MAYO CLIN PROC, V76, P777