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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes

Fig. 2

Cytogenetic and molecular results for patients carrying sSMCs derived from min(Y). (A) 61166: (a) The karyotype was detected by G-banding. (b) AZF-b, AZF-d, and AZF-c regions were deleted. The SRY was positive. (c) NGS identified two deletions on chromosome Y. (d) The location of the sSMC on chromosome Y is highlighted in red. (B) W02938: (a) The karyotype was mosaic. (b) STR AMEL(X:Y) was 2:1, DYS448(Yq11.223) was not detected (negative), but SRY was positive. (C) 69433: (a) The karyotype was mosaic. (b) MLPA detected an abnormal Y in “Y-002.889246”. The data for patients 61680, 62091, 77297, 80794, 98139 and W01824 were presented separately from (D) to (I). (a) The karyotypes were revealed by G-banding. (b) STR analysis detected deletions in the AZF regions. The date of 150677, 162047 and 171276 were presented separately from (J) to (L). (a) The karyotypes were revealed by G-banding. (b) STR detected X and Y chromosomes. (L) 171276: (c) The location of the sSMC on chromosome Y is highlighted in red

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