Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation

Minerva Pediatr. 2018 Dec;70(6):639-642. doi: 10.23736/S0026-4946.18.05011-9. Epub 2018 Apr 12.

Authors

Giulia Pascolini¹, Michele Valiante², Silvia Majore², Filomena Cariola³, Luigi Laino², Mauro Calvani⁴, Paola Grammatico²

Affiliations

¹ Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy - giupascolini@gmail.com.
² Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
³ Medical Genetics Unit, Saverio de Bellis Institute, Castellana Grotte, Bari, Italy.
⁴ Division of Pediatrics, San Camillo-Forlanini Hospital, Rome, Italy.

PMID: 29651829
DOI: 10.23736/S0026-4946.18.05011-9

No abstract available

Publication types

Case Reports

MeSH terms

Adolescent
Chromosome Deletion
Chromosomes, Human, X / genetics*
Codon, Nonsense
DNA-Binding Proteins / genetics*
Female
Fingers / abnormalities*
Hair Diseases / genetics*
Humans
Incidental Findings
Langer-Giedion Syndrome / genetics*
Nose / abnormalities*
Repressor Proteins
Transcription Factors / genetics*

Substances

Codon, Nonsense
DNA-Binding Proteins
Repressor Proteins
TRPS1 protein, human
Transcription Factors

Supplementary concepts

Trichorhinophalangeal Syndrome, Type I