Mol Genet Genomic Med 2021 Sep 28:e1645. Epub 2021 Sep 28.
Service de Biochimie et Génétique, AP-HP. Hôpitaux Universitaires Henri Mondor, Hôpital Henri Mondor, Créteil, France.
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. Read More