Journal: Scientific Reports

Article Title: Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization

doi: 10.1038/s41598-017-10466-z

Figure Lengend Snippet: Summary of cytogenetic, aCGH and FISH findings in small supernumerary marker chromosomes.

Article Snippet: For NimbleGen aCGH platform, human reference genomic DNA was purchased from Promega (Promega Corporation, Madison, WI, USA).

Techniques: Marker, Control

Journal: Scientific Reports

Article Title: Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization

doi: 10.1038/s41598-017-10466-z

Figure Lengend Snippet: Cytogenetic and molecular results of case P14. The marker is highlighted by a blue arrow in a, d, and e. ( a ) In twelve out of the twenty studied cells, G-banding revealed a karyotype 47,XX, + mar. In the other eight cells, G banding revealed a normal karyotype 46,XX. ( b ) The sSMC of case P14 characterized after aCGH covering 28.6 Mb [arr3q26.3qter(170,924,999–199,501,827)x3] in chromosome 3 and 15.6 Mb [arr11q23.3qter(118,874,999–134,440,034)x3] in chromosome 11. ( c ) and ( d ) Confirmatory FISH results of this sSMC using the RP11-362K14 probe specific for 3q26 and the RP11-496N6 probe specific for 11qter revealed that 82% of the cells had three distinct signals.

Article Snippet: For NimbleGen aCGH platform, human reference genomic DNA was purchased from Promega (Promega Corporation, Madison, WI, USA).

Techniques: Marker

Journal: Scientific Reports

Article Title: Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization

doi: 10.1038/s41598-017-10466-z

Figure Lengend Snippet: Cytogenetic and molecular results of case P5. The marker is highlighted by a red arrow in a, c, and d. ( a ) G-banding revealed a karyotype 47,XX, +mar in all studied cells. ( b ) The sSMC of case P6 characterized after aCGH as partial tetraploid: arr15p11.1q11.2(18,420,959–22,812,656)x4 and partial hexaploid: arr15q11.2-q12(22,818,696–26,863,401)x6. ( c ) Confirmatory FISH result of this sSMC revealed two distinct hybridization signals of D15Z1 and one large GABRB3 signal on the marker chromosome in metaphase cells. ( d ) Confirmatory FISH result of this sSMC revealed six distinct hybridization signals of GABRA3 and four distinct hybridization signals of D15Z1 in one interphase cell. ( e ) Schematic of sSMC. The structure of the sSMC was der(15)(pter- > q13.1::q13.1- > q11.2::q11.2- > q13.1::q13.1- > pter).

Article Snippet: For NimbleGen aCGH platform, human reference genomic DNA was purchased from Promega (Promega Corporation, Madison, WI, USA).

Techniques: Marker, Hybridization