A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2.

Background: The Xq22.2 q23 is a complex genomic region which includes the genes MID2 and PLP1 associated with FG syndrome 5 and Pelizaeus-Merzbacher disease, respectively. There is limited information regarding the clinical outcomes observed in patients with deletions within this region.

Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients.

Purpose: A complete set of subtelomeric fluorescent DNA probes, except the acrocentric p-arms, was developed in 1996, was optimized in 1998, and is commercially available. These and other fluorescence in situ hybridization (FISH) probes have been used to detect anomalies of the subtelomere regions among groups of patients with idiopathic mental retardation (MR), developmental delay (DD), and/or nonspecific dysmorphic features (NDF), and individuals with multiple miscarriages (MM) who were karyotypically normal by standard G-banding techniques.

Methods: A total of 425 patients were analyzed, of whom 372 had idiopathic MR/DD/NDF and 53 were involved in MM.