[Report on 16 rare species of human chromosomal]

Yi Chuan. 2005 Mar;27(2):201-4.
[Article in Chinese]

Abstract

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.

Publication types

  • English Abstract

MeSH terms

  • Abortion, Habitual
  • Adolescent
  • Adult
  • Amenorrhea
  • Chromosome Aberrations*
  • Chromosome Disorders / genetics*
  • Chromosome Disorders / pathology
  • Chromosome Inversion
  • Female
  • Humans
  • Karyotyping
  • Male
  • Pregnancy
  • Stillbirth
  • Translocation, Genetic