Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.

ABSTRACT:

Background

Terminal deletions of the long arm of chromosome 7 are well known and frequently associated with syndromic holoprosencephaly due to the involvement of the SHH (aliases HHG1, SMMCI, TPT, TPTPS, and MCOPCB5) gene region. However, interstitial deletions including CNTNAP2 (aliases Caspr2, KIAA0868, and NRXN4) and excluding the SHH region are less common.

Methods

We report the clinical and molecular characterization associated with pure 7q35 and 7q35q36.1 deletion in two unrelated patients as detected by oligonucleotide-based array-CGH analysis.

Results

The common clinical features were abnormal maternal serum screening during first-trimester pregnancy, low occipitofrontal circumference at birth, hypotonia, abnormal feet, developmental delay, impaired language d

SUBMITTER: Tosca L 

PROVIDER: S-EPMC8606216 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature