Trisomy chromosome (22)(q13.1-qter) as a result of paternal inversion (22)(p11q13.1) proved using region-specific FISH probes.

We present a male infant with multiple congenital anomalies including severe growth retardation, microcephaly, hypertelorism, low-set ears, bilateral cleft lip and palate, micrognathia, cryptorchidism with hypospadias, hemivertebrae, and complex heart defects. The karyotype was 46, XY, rec(22) dup(22q) inv(22)(p11q13)pat. The duplicated segment (q13.1 -->qter), a result of an unbalanced recombinant derived from the paternal inversion (22)(pllq13.1), was confirmed using results of silver staining for nucleolar organizer regions (NOR) and fluorescence in situ hybridization with region-specific probes (D22S75/D22S39 and Mbcr). This case further delineated the clinical entity of duplicated 22q13 or distal trisomy 22.