title: Distinct karyotypes in two offspring of a man with jumping translocation karyotype 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10].
abstract: We examined a man and his daughter, who both had different jumping translocation karyotypes. The man's wife was pregnant and had been referred for prenatal diagnosis of the fetus. The karyotype of the husband's peripheral blood lymphocytes was 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10]. The karyotype of the daughter's peripheral blood lymphocytes was 45,XX,der(16)t(16;22)(q24;q11.2), -22 [45]/45,XX,der(9)t(9;22)(q34;q11.2), -22 [30]/45,XX,der(5)t(5;22)(q35;q11.2), -22 [25]. The wife and the fetus both had a normal karyotype. To the best of our knowledge, the present familial transmitted jumping translocation has not been previously described and the jumping translocation in the husband and daughter did not cause any phenotypic abnormalities.
authors.affiliation: Center for Prenatal Diagnosis, Department of Obstetrics and Gynecology, Southwest Hospital, Third Military Medical University, ChongQing, People's Republic of China.
authors.forename: Hua
authors.initials: H
authors.lastname: Hu
authors.forename: Hong
authors.initials: H
authors.lastname: Yao
authors.forename: Yanlin
authors.initials: Y
authors.lastname: Dong
authors.forename: Yang
authors.initials: Y
authors.lastname: Long
authors.forename: Liang
authors.initials: L
authors.lastname: Xu
authors.forename: Bing
authors.initials: B
authors.lastname: Hu
authors.forename: Gang
authors.initials: G
authors.lastname: Xu
authors.forename: Zhiqing
authors.initials: Z
authors.lastname: Liang
mesh_terms: D059786:Abnormal Karyotype; D000293:Adolescent; D000328:Adult; D056905:Chromosome Breakpoints; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic
keywords: jumping translocation; mosaicism; non-Robertsonian recurrent translocation; prenatal diagnosis