title: Trisomy chromosome (22)(q13.1-qter) as a result of paternal inversion (22)(p11q13.1) proved using region-specific FISH probes.
abstract: 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.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taoyuan, Taiwan, ROC. houjw741@cgmh.org.tw
authors.forename: Jia-Woei
authors.initials: JW
authors.lastname: Hou
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D007446:Chromosome Inversion; D002892:Chromosomes, Human, Pair 22; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D014314:Trisomy