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

Author:

Lustosa-Mendes Elaine1,dos Santos Ana Paula1,Viguetti-Campos Nilma Lúcia1,Vieira Társis Paiva1,Gil-da-Silva-Lopes Vera Lúcia1

Affiliation:

1. Faculty of Medical Sciences; Department of Medical Genetics; University of Campinas (Unicamp); São Paulo Brazil

Funder

State of São Paulo Research Foundation-Fapesp

National Council for Scientific and Technological Development-CNPq

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference31 articles.

1. Molecular screening of the TGIF gene in holoprosencephaly: Identification of two novel mutations;Aguilella;Hum Genet,2003

2. Recombinant chromosome 18 in two offspring of a chromosome 18 inversion heterozygote;Andrews;Ann Genet,1982

3. Sperm studies in heterozygote inversion carriers: A review;Anton;Cytogenet Genome Res,2005

4. Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(l8)(pll.Zq21.3);Asano;Jpn J Hum Genet,1991

5. Recombinant chromosome 18 resulting from a maternal pericentric inversion;Ayukawa;Am J Med Genet,1994

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