RESUMO
Cytogenetic investigations carried out on 1021 cases of Down syndrome revealed translocation in 46 cases. The most frequent was of t(14;21) and t(21;21) types. Most of the translocation DS cases (n = 31) were born to younger mothers (< 25 years), when compared to pure trisomy 21 DS cases. Parental karyotypes, family history and parental ages has helped us greatly in offering genetic counseling, prenatal diagnosis and estimating the risk for the next conception.
Assuntos
Adolescente , Adulto , Fatores Etários , Ordem de Nascimento , Análise Citogenética , Síndrome de Down/epidemiologia , Feminino , Heterozigoto , Humanos , Índia/epidemiologia , Cariotipagem , Masculino , Mosaicismo/genética , Pais , Medição de Risco/métodos , Translocação Genética/genética , Trissomia/genéticaRESUMO
Cytogenetic investigations carried on 1021 cases of Down syndrome revealed translocation in 46 cases. The most frequent was of t(14;21) and t(21;21) types. Most of the translocation DS cases (n = 31) were born to younger mother's (< 25 years), when compared to pure trisomy 21 DS cases. Parental karyotypes, family history and parental ages has helped us greatly in offering genetic counseling, prenatal diagnosis and estimating the risk for the next conception.
Assuntos
Cromossomos Humanos Par 21/genética , Síndrome de Down/epidemiologia , Feminino , Aconselhamento Genético , Humanos , Índia/epidemiologia , Masculino , Idade Materna , Idade Paterna , Gravidez de Alto Risco , Translocação GenéticaRESUMO
AIM: The present study was aimed to define the incidence of antiphospholipid antibodies of different types lupus anticoagulant (LAC), venereal disease research laboratory test (VDRL) and Beta2-glycoprotein I dependent anticardiolipin antibodies Beta2 I aCL) in our cohort of population experiencing recurrent pregnancy loss (RPL) from Andhra Pradesh, South India. SETTING AND DESIGN: A referral case-control study at a tertiary centre over a period of 5 years. PARTICIPANTS: 150 couples experiencing 3 or more recurrent pregnancy losses with similar number of matched controls. MATERIAL AND METHODS: LAC activity was measured by the activated partial thromboplastin time (aPTT) according to the method of Proctor and Rapaport with relevant modifications. VDRL analysis was performed by the kit method supplied by Ranbaxy Diagnostics Limited and Beta2 Glycoprotein I dependent anticardiolipin antibodies were estimated by ELISA kit (ORGen Tech, GmbH, Germany) with human Beta2 Glycoprotein I as co-factor. STATISTICAL ANALYSIS: Statistical analysis was performed using Student's t test. RESULTS: LAC activity was found positive in 11 women (10.28%). The mean +/- SE Beta2 I aCL concentration in the study group was 14.53 (micro/ml) +/- 1.79 (range 0 to 90.4 micro/ml) which was higher than the control group with a mean +/- SE of 7.26 (micro/ml) +/- 0.40 (range 0 to 18 u/ml). The binding of the antibodies to the antigen was observed in 40.24% (n=33) of the cases compared to 6.09% (n=5) in controls. VDRL test was positive in 7(2.34%) individuals (3 couples and 1 male partner) and none among controls. CONCLUSIONS: The present study indicates the importance of antiphospholipid antibodies in women experiencing RPL and suggests the usefulness of screening for these antibodies as a mandatory routine for instituting efficient therapeutic regimens for a successful outcome of pregnancy.