Table of contents

Letters to the editor

• Presymptomatic testing in myotonic dystrophy: genetic counselling approaches (1 December, 2001)

  Siv Fokstuen, Jenny Myring, Christine Evans, Peter S Harper
• Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy (1 December, 2001)

  Jeanne Amiel, Valérie Raclin, Jean-Marie Jouannic, Nicole Morichon, Hélène Hoffman-Radvanyi, Marc Dommergues, Josué Feingold, Arnold Munnich, Jean-Paul Bonnefont
• Psychological studies in Huntington's disease: making up the balance (1 December, 2001)

  Magdalena Duisterhof, Rutger W Trijsburg, Martinus F Niermeijer, Raymund A C Roos, Aad Tibben
• A novel 3′ mutation in the APC gene in a family presenting with a desmoid tumour

  (1 December, 2001)

  Diana Eccles, John Harvey, Adrian Bateman, Fiona Ross
• A silent mutation in exon 14 of theAPC gene is associated with exon skipping in a FAP family

  (1 December, 2001)

  Mariapina Montera, Francesca Piaggio, Cristiana Marchese, Viviana Gismondi, Alessandro Stella, Nicoletta Resta, Liliana Varesco, Ginevra Guanti, Cristina Mareni
• Evidence of somatic mosaicism for aMECP2 mutation in females with Rett syndrome: diagnostic implications

  (1 December, 2001)

  Violaine Bourdon, Christophe Philippe, Thierry Bienvenu, Bernadette Koenig, Marc Tardieu, Jamel Chelly, Philippe Jonveaux
• Temperature sensitive acyl-CoA oxidase import in group A peroxisome biogenesis disorders (1 December, 2001)

  Atsushi Imamura, Nobuyuki Shimozawa, Yasuyuki Suzuki, Zhongyi Zhang, Toshiro Tsukamoto, Tadao Orii, Takashi Osumi, Naomi Kondo
•   Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)

  (1 December, 2001)

  Ichiro Kobayashi, Reza Shiari, Masafumi Yamada, Nobuaki Kawamura, Motohiko Okano, Asao Yara, Akihiro Iguchi, Nobuyoshi Ishikawa, Tadashi Ariga, Yukio Sakiyama, Hans D Ochs, Kunihiko Kobayashi
• Maternal uniparental isodisomy 11q13→qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13→qter (1 December, 2001)

  Dieter Kotzot, Benno Röthlisberger, Mariluce Riegel, Albert Schinzel
• High frequencies of ICF syndrome-like pericentromeric heterochromatin decondensation and breakage in chromosome 1 in a chorionic villus sample (1 December, 2001)

  Melanie Ehrlich, Fern Tsien, Delma Herrera, Viola Blackman, Jennifer Roggenbuck, Cathy M Tuck-Muller
• Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child (1 December, 2001)

  Benno Röthlisberger, Tatjana E Zerova, Dieter Kotzot, Tamara I Buzhievskaya, Damina Balmer, Albert Schinzel
• Sponastrime dysplasia: presentation in infancy (1 December, 2001)

  A C Offiah, M Lees, R M Winter, C M Hall