Robert Wallerstein

TL;DR: Karyotype–phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories to facilitate genetic counselling and to facilitate clinical correlation.

TL;DR: This is the first report of placental trisomy 16, UPD in fetus, and body stalk anomaly, suggesting placental insufficiency or imprinting effects as cause of this anomaly.

TL;DR: The patient illustrates the need to consider cytogenetic studies in patients with the Seckel phenotype, so that accurate diagnoses can be given to families, and suggests that there may be a locus for oligomeganephronia distal to the Wolf-Hirschhorn critical region on 4p.

TL;DR: The phenotype of this fetus supports the previously suggested hypothesis that the different subtypes of the short rib and polydactyly syndrome are not single entities, but rather, part of a continuous spectrum with variable expressivity.

TL;DR: A significant proportion of women who present as candidates for oocyte donation are inappropriate for donation because of their genetic history or genetic testing results, suggesting a thorough genetic evaluation is essential to any oocyte donor program to maximize positive outcomes in pregnancies achieved through assisted means.