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Nine genes that may contribute to partial trisomy (6)(p22→pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment
Author(s) -
Su PenHua,
Lee InnChi,
Yang ShunFa,
Ng YanYan,
Liu ChanSheng,
Chen JiaYuh
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33943
Subject(s) - partial trisomy , retinal detachment , trisomy , retinal , biology , genetics , chromosome , gene , medicine , ophthalmology , karyotype
We report on a newborn girl with facial anomalies, a congenital heart defect, severe pre‐ and postnatal growth retardation, feeding problems, and persistent hyperplastic primary vitreous. Cytogenetic analysis by high resolution GTG banding showed extra chromosomal material on the short arm of one chromosome 1 of the patient, but neither parent. SKY and CGH analysis demonstrated that the patient had a de novo 46,XX, der(1)t(1;6)(p36.3; p22). Compared with previously reported cases of partial trisomy 6p22 syndrome, this patient exhibited a unique condition for this syndrome: persistent hyperplastic primary vitreous (PHPV) with retinal detachment. The human genome database was searched for candidate genes and we propose the following nine genes located in the 6p22→6pter region for their potential contribution to the phenotype of partial trisomy 6p22→pter and persistent hyperplastic primary vitreous (PHPV) with retinal detachment: Forkhead box Q1 (FOXQ1) , FOXF2 , FOXC1 , NRN1 , EDN1 , ATXN1 , DEK oncogene , E2F3 , and NRNS1 . © 2012 Wiley Periodicals, Inc.