title: Nine genes that may contribute to partial trisomy (6)(p22→pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment.
abstract: 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.
authors.affiliation: Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
authors.forename: Pen-Hua
authors.initials: PH
authors.lastname: Su
authors.forename: Inn-Chi
authors.initials: IC
authors.lastname: Lee
authors.forename: Shun-Fa
authors.initials: SF
authors.lastname: Yang
authors.forename: Yan-Yan
authors.initials: YY
authors.lastname: Ng
authors.forename: Chan-Sheng
authors.initials: CS
authors.lastname: Liu
authors.forename: Jia-Yuh
authors.initials: JY
authors.lastname: Chen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D025063:Chromosome Disorders / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D054514:Persistent Hyperplastic Primary Vitreous / Q000235:genetics*; D010641:Phenotype; D012163:Retinal Detachment / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*