46,XY,9(p24)dup(2q35q37.3) with cryptorchidism: A case report and literature review

摘要

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.