RESUMO
By examining the lymphocytic chromosomes of peripheral blood from patients with amenorrhea, spontaneous abortion and stillbirth history, .the 16 rare species of human chromosomal abnormal karyotypes were discovered. They were 46,XY,t(6;11)(q25;p15);46,XY,inv(3)(p25;q29);46,XY,t(7;18)(q10;p10);46,X,t(X;13)(q24;q14);46,XY,t(4;7)(q33;q22);46,XY,t(8;15)(q24;q15);46,XY,t(2;17)(q33;q25);46,XX,t(4;7)(q34;q11);46,XX,t(1;3)(p36;p23);46,XX,t(4;6)(q35;p11);46,X,inv(X)(q22;q28);46,XX,t(7;10)(p11;q26);46,XX,t(3;6)(p21;q23);46,XX,t(8;16)(p21;p13);46,XX,t(8;9)(q21;q34);46,XY,t(17;22)(q21;q11). Their clinical situation were described. Discussion on the relationship between the chromosomal aberrations and phenotype effect indicates the importance of chromosome karyotyping in patients with abnormal reproductive history.
Assuntos
Aberrações Cromossômicas , Transtornos Cromossômicos/genética , Aborto Habitual , Adolescente , Adulto , Amenorreia , Transtornos Cromossômicos/patologia , Inversão Cromossômica , Feminino , Humanos , Cariotipagem , Masculino , Gravidez , Natimorto , Translocação GenéticaRESUMO
We describe a seven-generation large family with talipomanus and talipes, 175 individuals in this family were involved. 32 affected individuals including 18 males and 14 females whose clinical features were different and 1 suspicious male were found. The talipomanus were symmetrical, and varus and valgus were caused by vertical talus. We investigated their living environment, the dietary habit, obstetrical history, physical status, lifespan, and studied cytogenetics and so on. We propose these defects were rare distal arthrogrophy genetic disease.