ABSTRACT
Cytogenetic studies performed for 100 couples with a history of two or more early or late pregnancy loss revealed that in 8 couples [8%], one partner was a carrier of a chromosome anomaly. These included four cases of triple X females and four cases of structural aberrations. In addition, the presence of minor polymorphic variants was demonstrated in seven couples. Analysis of the frequencies of chromosome aberrations according to number of fetal wastages, type of fetal wastage and consanguinity revealed comparable results. However, a higher consanguinity rate was observed among couples with mixed reproductive wastage [67%] as compared to couples with only first trimester abortions [42%]
Subject(s)
Humans , Male , Female , Chromosome Aberrations , Chromosome Aberrations/complications , ConsanguinityABSTRACT
This study aimed at determining the percentage of primary amenorrhea, some epidemiological risk factors, the effect and frequency of chromosomal abnormalities in females with primary amenorrhea. All females complaining of primary amenorrhea, who attended the Outpatient Clinic of Obstetric and Gynecology Department in Zagazig University Hospital through one year from January to December 31, 1990, were studied representing 60 females out of 5392. Another 60 fertile females with regular menstrual cycle were randomly selected as a control group. Their ages ranged from 17 to 40 years. All females were subjected to full general, medical, gynecological and histological [chromosomal], investigations. The results of this study revealed that the percentage of primary amenorrhea was 1.1% out of 5392 females and 36.7% of all amenorrheaic cases had abnormal chromosomal constitution. And 70% of cases had structural chromosomal aberration. On the other hand, anthropometric measurements regarding to height, weight, and span, and congenital anomalies, were related to the occurrence of primary amenorrhea. However, no significant difference was observed with age and marital status. Finally, it is recommended that, genetically determined primary amenorrheic case can be prevented by genetic counseling. Premarital examination and good antenatal care of mothers should be also provided to avoid the risk of congenital malformation
Subject(s)
Cytogenetics , Mutation , Epidemiologic Factors , Chromosome Aberrations/complications , Chromosome AberrationsABSTRACT
Culturas de sangue de uma paciente com retardo de crescimento e infecçäo recorrente mostram cariótipo 46,XX,18p-. As bandas excluiram a presença de translocaçäo ou inversäo pericêntrica e mostram que o cromossomo anormal tem uma deficiência simples. Os dados clínicos säo concordantes com a síndrome 18p- clássica, mas a doente apresenta também megaesófago, uma má formaçäo que näo tem sido descrita previamente. Os estudos imunológicos mostram uma ausência completa de IgA. A associaçäo de 18p- e anormalidade imunológica tem sido observada repetidamente e o significado da mesma é discutido neste trabalho
Subject(s)
Child, Preschool , Humans , Female , Chromosome Aberrations/complications , Dysgammaglobulinemia/complications , Immunoglobulin A/deficiency , Growth DisordersABSTRACT
Se aporta la observación de un caso de trisomía 1q parcial asociada a manifestaciones fenotípicas y anatomopatológicas propias de la anomalía de Di George. La variable expresión de la misma parece correlacionarse con distintas circunstancias asociadas, que se interpretan como causantes de la mencionada anomalía. Los autores establecen la relación entre cromosomopatía y alteración fenotípica, sugiriendo la obligatoriedad del estudio citogenético de aquellos cuadros que clínicamente correspondan a los distintos grados de síndrome de Di George