Disorders

Trichorhinophalangeal Syndrome Type II

Synonym(s): Chromosome 8q24.1 Deletion Syndrome, Langer-Giedion Syndrome, LGS, TRPS2

Gene	Locus	Protein
TRPS1	8q23.3	Zinc finger transcription factor Trps1

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• FISH-metaphase
CeGaT GmbH - Tuebingen, Germany
CGC Genetics - Porto, Portugal
Medgene, MedGene - Bratislava, Slovakia
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA	• FISH-metaphase • FISH-interphase
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.