Table of contents

Research Article

• Clustering of Y chromosome deletions in subinterval E of interval 6 supports the existence of an oligozoospermia critical region outside the DAZ gene. (1 November, 1997)

  L Stuppia, V Gatta, G Mastroprimiano, F Pompetti, G Calabrese, P Guanciali Franchi, E Morizio, R Mingarelli, M Nicolai, R Tenaglia, L Improta, V Sforza, S Bisceglia, G Palka
• Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families. (1 November, 1997)

  U Hamann, M Häner, U Stosiek, G Bastert, R J Scott
• Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis. (1 November, 1997)

  M Sessa, R Nemni, A Quattrini, U Del Carro, L Wrabetz, N Canal
• Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations. (1 November, 1997)

  L Kozák, M Blazková, V Kuhrová, A Pijácková, S Růzicková, S St'astná
• Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly. (1 November, 1997)

  B Benzacken, J P Siffroi, C Le Bourhis, K Krabchi, N Joyé, F Maschino, F Viguié, J Soulié, M Gonzales, G Migné, M Bucourt, F Encha-Razavi, L Carbillon, J L Taillemite
• Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. (1 November, 1997)

  J C Gardner, R Goliath, D Viljoen, S Sellars, G Cortopassi, T Hutchin, J Greenberg, P Beighton
• DNA testing for fragile X syndrome: implications for parents and family. (1 November, 1997)

  M A van Rijn, B B de Vries, A Tibben, A M van den Ouweland, D J Halley, M F Niermeijer
• Rapid identification of multiple supernumerary ring chromosomes with a new FISH technique. (1 November, 1997)

  C Mackie-Ogilvie, K Waddle, J Mandeville, M J Seller, Z Docherty
• Prader-Willi syndrome. (1 November, 1997)

  S B Cassidy
• Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus. (1 November, 1997)

  M Losekoot, E Hoogendoorn, R Olmer, C C Jansen, J C Oosterwijk, A M van den Ouweland, D J Halley, S T Warren, R Willemsen, B A Oostra, E Bakker
• Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome. (1 November, 1997)

  M C Digilio, B Marino, A Giannotti, B Dallapiccola
• Paternal transmission of congenital myotonic dystrophy. (1 November, 1997)

  C E de Die-Smulders, H J Smeets, W Loots, H B Anten, J F Mirandolle, J P Geraedts, C J Höweler
• Misleading linkage results in an NF2 presymptomatic test owing to mosaicism. (1 November, 1997)

  E K Bijlsma, A J Wallace, D G Evans
• Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression? (1 November, 1997)

  R Gulati, S R Phadke, S S Agarwal
• Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families. (1 November, 1997)

  G J Lee-Chen, T R Wang
• Radial aplasia and chromosome 22q11 deletion. (1 November, 1997)

  M C Digilio, A Giannotti, B Marino, A M Guadagni, M Orzalesi, B Dallapiccola
• Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings. (1 November, 1997)

  T Mattina, M Pierluigi, D Mazzone, S Scardilli, C Perfumo, F Mollica
• Germline duplication of chromosome 2p and neuroblastoma. (1 November, 1997)

  J S Patel, J Pearson, L Willatt, T Andrews, R Beach, A Green
• Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2). (1 November, 1997)

  M Masuno, K Imaizumi, Y Fukushima, Y Tanaka, T Ishii, M Nakamura, Y Kuroki
• Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR. (1 November, 1997)

  P E Taschner, N de Vos, M H Breuning
• Methionine synthase and neural tube defects. (1 November, 1997)

  K Morrison, Y H Edwards, S A Lynch, J Burn, F Hol, E Mariman
• Limb-girdle muscular dystrophy or spinal muscular atrophy: a source of diagnostic confusion? (1 November, 1997)

  R Pogue, T Jackson, B Sayli, A Curtis, K M Bushby
• China's eugenics law: position statement of the Canadian College of Medical Geneticists. (1 November, 1997)