ERS3632458
SRA accession
HS46XX_1 - Triphalangeal thumb-polysyndactyly syndrome (TPT-PS), double outlet right ventricle, pulmonic stenosis, microphthalmia, coloboma of optic disc, 46 XX&10;
description
2 months
dev stage
Russia
geographic location (country and/or sea)
Homo sapiens
organism
Homo sapien
http://purl.obolibrary.org/obo/NCBITaxon_9606
scientific name
Female
http://purl.obolibrary.org/obo/PATO_0000383
sex
In this study we report on a rare neonatal case of triphalangeal thumb-polysyndactyly syndrome (TPT-PS) combined with a severe congenital heart disease, namely double outlet right ventricle (DORV), and microphthalmia with optic disc coloboma. High-resolution array-CGH revealed a ~ 299 kb microduplication of 7q36.3 locus encompassing a long-range sonic hedgehog (SHH) regulatory sequence (ZRS).
submission description
GSB-1371
submission identifier
Array-CGH analysis of a patient with triphalangeal thumb-polysyndactyly syndrome combined with a complex congenital heart defect and optic disc coloboma
submission title
Whole blood
http://purl.obolibrary.org/obo/UBERON_0000178
tissue type