Theresa A. Grebe

TL;DR: It is proposed that recurrent reciprocal microdeletions and microduplications within 1q21.1 represent previously unknown genomic disorders characterized by abnormal head size along with a spectrum of developmental delay, neuropsychiatric abnormalities, dysmorphic features and congenital anomalies.

TL;DR: It is shown that constitutionally acquired CGRs share similarities with cancer chromothripsis, which suggests similar mechanistic underpinnings in basic DNA metabolism operative throughout an organism's life cycle.

TL;DR: The use of interphase fluorescence in situ hybridization (FISH) and pulsed-field gel electrophoresis (PFGE) is reported to identify a genomic polymorphism in families with WBS, consisting of an inversion of the WBS region, suggesting the presence of a newly identified genomic variant within the population that may be associated with the disease.

TL;DR: The collective data suggest that increased MECP2 gene copy number is mainly responsible for the neurodevelopmental phenotypes in these males and underscores the value of molecular analysis for patient diagnosis, family members at risk, and genetic counseling.

TL;DR: Additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease.