18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family.

@article{Zannolli200318qsyndromeAE,
  title={18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family.},
  author={Raffaella Zannolli and M. PierLuigi and Lucia Pucci and Nancy Lagrasta and O Gasparre and Maria Rosaria Matera and Rosanna Maria di Bartolo and Maria Antonietta Mazzei and Pat Sacco and Clelia Miracco and Maria Margherita de Santi and Paolo Aitiani and Simona Cavani and Luca Pellegrini and Michele Fimiani and Carlo Alessandrini and P Galluzzi and Walter Livi and Stefano Gonnelli and P Terrosi-Vagnoli and Michele Zappella and Guido Morgese},
  journal={American journal of medical genetics. Part A},
  year={2003},
  volume={116A 2},
  pages={192-9}
}
The 18q- syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine-year-old boy possessing a simple 18q- deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18… CONTINUE READING