A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature.

Autor: Lustosa-Mendes E; Faculty of Medical Sciences, Department of Medical Genetics, University of Campinas (Unicamp), São Paulo, Brazil., Dos Santos AP; Faculty of Medical Sciences, Department of Medical Genetics, University of Campinas (Unicamp), São Paulo, Brazil., Viguetti-Campos NL; Faculty of Medical Sciences, Department of Medical Genetics, University of Campinas (Unicamp), São Paulo, Brazil., Vieira TP; Faculty of Medical Sciences, Department of Medical Genetics, University of Campinas (Unicamp), São Paulo, Brazil., Gil-da-Silva-Lopes VL; Faculty of Medical Sciences, Department of Medical Genetics, University of Campinas (Unicamp), São Paulo, Brazil.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Jan; Vol. 173 (1), pp. 143-150. Date of Electronic Publication: 2016 Sep 15.
DOI: 10.1002/ajmg.a.37976
Abstrakt: We report a boy carrying a recombinant chromosome 18, with terminal deletion of 10.8 Mb from 18p11.32 to 18p11.21 and a terminal duplication of 22.8 Mb from 18q21.31 to 18q23, resulting from a maternal pericentric inversion of the chromosome 18. He presented with poor growth, developmental delay, facial dysmorphisms, surgically repaired left cleft lip and palate, a mild form of holoprosencephaly characterized by single central incisor and agenesis of the septum pellucidum, and body asymmetry. Based on the systematic review of the literature, we discuss genotype-phenotype correlation and the risk for the recombinants of pericentric inversions of chromosome 18. © 2016 Wiley Periodicals, Inc.
(© 2016 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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