Related Experiment Video
Updated: Aug 26, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Abstract:
A one-year-old boy with focal dermal hypoplasia (Goltz syndrome) is reported in this paper. Numerous malformations (coloboma of the iris, syndactylia, pyelon and urether duplex 1. sin, cystouretheral reflux, hypospadia), typical changes on the skin, numerous papillomas and psychomotoric retardation have been found. The disease has been proved by the skin-biopsy finding. Our patient, unlike so far described affected persons differed in having a severe papillomatosis of the larynx which necessitated the performance of tracheotomy at the age of one year. Described patient represents a fresh mutation in the family.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
06:41In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Related Concept Videos
Pleiotropy
X-linked Traits
Sex-linked Disorders
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The Y Chromosome Determines Maleness
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size. Today,...
Sex Linked Disorders