Julia K Gittler

Attenuated neutrophil axis in atopic dermatitis compared to psoriasis reflects TH17 pathway differences between these diseases

Nikhil Dhingra, BSa,b,c, Mayte Suarez-Farinas, PhDa,c, Judilyn Fuentes-Duculan, MDa, Julia K. Gittler, BAa,d, Avner Shemer, MDe, Assaf Raz, PhDf, Vincent A. Fischetti, PhDf, James G. Krueger, MD, PhDa, and Emma Guttman-Yassky, MD, PhDa,g Emma Guttman-Yassky: eguttman@rockefeller.edu aThe Laboratory for Investigative Dermatology, The Rockefeller University, New York, NY bColumbia University College of Physicians & Surgeons, New York, NY cThe Center for Clinical and Translational Science, The Rockefeller University, New York, NY dAlbert Einstein College of Medicine, Bronx, NY eThe Department of Dermatology, Tel-Hashomer, Tel Aviv, Israel fThe Laboratory of Bacterial Pathogenesis and Immunology, The Rockefeller University, New York, NY gThe Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York, NY

Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: a case series.

Terminal deletions on the X chromosome in female patients may be detected as part of a work up for infertility, premature ovarian insufficiency (POI) or in screening for fragile X carrier status. We present the clinical, cytogenetic and molecular features of four patients with terminal deletions of chromosome X that include the FMR1 gene, and discuss biological and genetic implications of this deletion. Providers should be aware of possible identification of Xq27 deletions as a potential outcome of fragile X screening.