Summary
A 1730-g male infant, born at 37 weeks gestation, had multiple congenital anomalies, consisting of microcephaly, hypertelorism, bilateral cleft lip and palate, micrognathia, lowset ears, and cryptorchidism. Chromosome analysis showed a recombinant 22 derived from the paternal inversion (22) (p13q12.2). The proband's karyotype is 46,XY,rec(22),dup q,inv(22)(p13q12.2)pat, which has a duplication of q12.2→qter. An identical recombinant has been reported in a female infant in Mexico whose mother was a carrier of the inversion. Similar congenital anomalies present in these two patients demonstrate the phenotype of duplication of the distal long arm 22. This report also documents the occurrence of an identical inversion in two apparently unrelated Mexican families.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Cantu JM, Hernandez A, Vaca G, Plascencia L, Martinez-Basalo C, Ibarra B, Rivera H (1981) Trisomy 22q→qter: “Aneusomie de recombinaison” of a pericentric inversion. Ann Genet (Paris) 24: 37–40
Fujimoto A, Wilson MG, Towner JW (1975) Familial inversion of chromosome no.8; an affected child and a carrier fetus. Humangenetik 27:67–73
Williams TM, McConnell TS (1982) Genetic search for the ancestory of recombinant chromosome-8 mediated mental retardation. Clin Res 30:93A
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Fujimoto, A., Wilson, M.G. & Towner, J.W. Duplication of the segment q12.2→qter of chromosome 22 due to paternal inversion 22(p13q12.2). Hum Genet 63, 82–84 (1983). https://doi.org/10.1007/BF00285406
Received:
Revised:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF00285406