Two unrelated individuals carrying rare mosaic deletions in TCF4 gene

Am J Med Genet A. 2019 Jan;179(1):134-138. doi: 10.1002/ajmg.a.60692. Epub 2018 Nov 18.

Authors

Ludmila Kousoulidou¹, Angelos Alexandrou¹, Ioannis Papaevripidou¹, Paola Evangelidou¹, George Tanteles², Violetta C Anastasiadou^{2

3}, Carolina Sismani^{1

4}

Affiliations

¹ Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
² Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
³ Department of Clinical Genetics, Archbishop Makarios III Medical Centre, Nicosia, Cyprus.
⁴ The Cyprus School of Molecular Medicine, Nicosia, Cyprus.

No abstract available

Keywords: TCF4 deletion; Pitt-Hopkins syndrome; array-CGH; intellectual disability; mosaicism.

Publication types

Letter

MeSH terms

Child
Child, Preschool
Comparative Genomic Hybridization
Facies
Female
Humans
Hyperventilation / genetics*
Hyperventilation / physiopathology
Infant
Intellectual Disability / genetics*
Intellectual Disability / physiopathology
Male
Mosaicism
Pedigree
Sequence Deletion / genetics
Transcription Factor 4 / genetics*

Substances

TCF4 protein, human
Transcription Factor 4

Supplementary concepts

Pitt-Hopkins syndrome