Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study.

Hsu LY ，Yu MT ，Richkind KE ，Van Dyke DL ，Crandall BF ，Saxe DF ，Khodr GS ，Mennuti M ，Stetten G ，Miller WA ，Priest JH ... -  《PRENATAL DIAGNOSIS》

Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases.

Hsu LY 《american journal of medical genetics》

Unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis.

Chen CP ，Chern SR ，Wu PC ，Tsai FJ ，Lee CC ，Town DD ，Chen WL ，Chen LF ，Lee MS ，Pan CW ，Wang W ... -  《-》

Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations.

Karyotype-phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories. Abnormal outcome was noted in 10/25 (40%) cases of 47,+13/46, 17/31 (54%) cases of 47,+18/46, 10/152 (6.5%) cases of 47,+20/46, and in 49/97 (50%) cases of 47,+21/46 mosaicism. Risk of abnormal outcome in pregnancies with less than 50% trisomic cells and greater than 50% trisomic cells were: 26% (4/15) versus 60% (6/10) for 47,+13/46, 52% (11/21) versus 75% (6/8) for 47,+18/46, 4.5% (6/132) versus 20% (4/20) 47,+20/46, and 45% (27/60) versus 59% (22/37) for 47,+21/46. Phenotypically normal liveborns were observed with mean trisomic cell lines of 9.3% for 47,+13/46, 8.6% for 47,+18/46, 27% for 47, +20/46, and 17% for 47,+21/46. Cytogenetic confirmation rates were 46% (6/13 cases) for 47,+13/46 mosaicism, 66% (8/12 cases) for 47, +18/46, 10% (10/97 cases) for 47,+20/46, and 44% (24/54 cases) for 47,+21/46. There were higher confirmation rates in pregnancies with abnormal versus normal outcome: 50% versus 44% for 47,+13/46 mosaicism, 100% versus 33% for 47,+18/46, 66% versus 7% for 47, +20/46, and 55% versus 40% for 47,+21/46. Repeat amniocentesis is not helpful in predicting clinical outcome. It may be considered when there is insufficient number of cells or cultures to establish a diagnosis. Fetal blood sampling may have a role in mosaic trisomy 13, 18, and 21 as the risk for abnormal outcome increases with positive confirmation: 1/5 (20%) normal cases versus 5/8 (62%) abnormal cases. High resolution ultrasound examination(s) is recommended for clinical correlation and to facilitate genetic counselling.

Wallerstein R ，Yu MT ，Neu RL ，Benn P ，Lee Bowen C ，Crandall B ，Disteche C ，Donahue R ，Harrison B ，Hershey D ，Higgins RR ，Jenkins LS ，Jackson-Cook C ，Keitges E ，Khodr G ，Lin CC ，Luthardt FW ，Meisner L ，Mengden G ，Patil SR ，Rodriguez M ，Sciorra LJ ，Shaffer LG ，Stetten G ，Van Dyke DL ，Wang H ... -  《-》

Prenatally diagnosed balanced chromosome rearrangements: eight years' experience.

Peng HH ，Chao AS ，Wang TH ，Chang YL ，Chang SD ... -  《JOURNAL OF REPRODUCTIVE MEDICINE》