Open AccessComplex cytogenetic rearrangements at the DURS 1 locus in syndromic Duane retraction syndrome
Author(s) -
Baris Hagit N.,
Chan WaiMan,
Andrews Caroline,
Behar Doron M.,
Donovan Diana J.,
Morton Cynthia C.,
Ranells Judith,
Pal Tuya,
Ligon Azra H.,
Engle Elizabeth C.
Publication year - 2013
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.11
Subject(s) - brachydactyly , locus (genetics) , genetics , medicine , microcephaly , allele , breakpoint , aplasia , biology , anatomy , chromosomal translocation , short stature , gene , endocrinology
Key Clinical Message A patient with syndromic Duane retraction syndrome harbors a chromosome 811.1q13.2 inversion and 8p11.1‐q12.3 marker chromosome containing subregions with differing mosaicism and allele frequencies. This case highlights the potential requirement for multiple genetic methods to gain insight into genotype–phenotype correlation, and ultimately into molecular mechanisms that underlie human disease.