Research Paper Volume 13, Issue 2 pp 2135—2148

Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis

Karyotype, CMA, and FISH analyses results for fetus 2. (A) and (B) a chromosomal karyotyping analysis showed a 45,X mosaic karyotype (46,X,+mar[68]/45,X[32]. The green arrow identifies the sSMC. (A) Karyotype analysis revealed 46,X,+mar. (B) Karyotype analysis revealed 45,X. (C) SNP array analysis revealed a 50 Mb genomic loss at Xp22.33q11.1 (spanning 290 OMIM genes), and a 58 Mb genomic loss at Xq21.31q28 (spanning 296 OMIM genes), including XIST gene. (D, E) Metaphase FISH results using the X, Y, and 18 chromosomal centromeric probes, RB1 and 21S259/D21S341/D21S342 confirmed the karyotype of fetus 2 was 46,X,+mar.ish der(X)r(X)(DXZ1+)[9]/45,X[7].

Figure 2. Karyotype, CMA, and FISH analyses results for fetus 2. (A) and (B) a chromosomal karyotyping analysis showed a 45,X mosaic karyotype (46,X,+mar[68]/45,X[32]. The green arrow identifies the sSMC. (A) Karyotype analysis revealed 46,X,+mar. (B) Karyotype analysis revealed 45,X. (C) SNP array analysis revealed a 50 Mb genomic loss at Xp22.33q11.1 (spanning 290 OMIM genes), and a 58 Mb genomic loss at Xq21.31q28 (spanning 296 OMIM genes), including XIST gene. (D, E) Metaphase FISH results using the X, Y, and 18 chromosomal centromeric probes, RB1 and 21S259/D21S341/D21S342 confirmed the karyotype of fetus 2 was 46,X,+mar.ish der(X)r(X)(DXZ1+)[9]/45,X[7].