Patricia A. Jacobs

TL;DR: The findings indicate that duplications in the PWACR give rise to developmental delay but not necessarily autism spectrum disorders and suggest that phenotypic expression is dependent on the parental origin of the duplication and implicate maternally active genes in the pathogenesis of the developmental impairments.

TL;DR: To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs) and to establish a smoking cessation strategy for individuals with SCTs.

TL;DR: The results show that translocations in phenotypically abnormal patients are molecularly distinct from those in normal individuals: the former are more likely to be associated with genomic imbalances at the breakpoints or elsewhere and with chromosomal complexity, whereas the frequency of gene disruption is similar in both normal and abnormal translocation carriers.

TL;DR: 137 patients with constitutional autosomal supernumerary marker chromosomes (SMC) ascertained in four principal groups were identified, and only de novo SMC(15)s were found to be associated with a significantly increased maternal age.

TL;DR: Premutation FRAXA alleles over 100 repeats expanded to a full mutation during female transmission in 100% of cases, in agreement with other published series, and there was no clear correlation between haplotype and probability of expansion of FRAxA premutations.