A young boy with a facial abnormality was brought to our genetics clinic.Physical examination found bilateral cryptorchidism.Several clinical genetic tests,including chromosome microarray analysis(CMA),karyotyping,and...A young boy with a facial abnormality was brought to our genetics clinic.Physical examination found bilateral cryptorchidism.Several clinical genetic tests,including chromosome microarray analysis(CMA),karyotyping,and azoospermia factor(AZF)microdeletions on the Y chromosome,were used to identify the genetic basis for this abnormality.The karyotype showed a duplication of the chromosome 2q35q37.3 fragment attached to chromosome 9(p24);CMA revealed 2q35q37.3(220,558,895-243,006,013)x3;the Y chromosome showed no AZF microdeletions;and the parent karyotypes were normal.Surgery has been planned to correct cryptorchidism a year after the original examination.A similar case was found previously.展开更多
文摘A young boy with a facial abnormality was brought to our genetics clinic.Physical examination found bilateral cryptorchidism.Several clinical genetic tests,including chromosome microarray analysis(CMA),karyotyping,and azoospermia factor(AZF)microdeletions on the Y chromosome,were used to identify the genetic basis for this abnormality.The karyotype showed a duplication of the chromosome 2q35q37.3 fragment attached to chromosome 9(p24);CMA revealed 2q35q37.3(220,558,895-243,006,013)x3;the Y chromosome showed no AZF microdeletions;and the parent karyotypes were normal.Surgery has been planned to correct cryptorchidism a year after the original examination.A similar case was found previously.
