J Med Genet -- Table of Contents (21 [1])

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February 1984 (Volume 21, Number 1). [Index by author]

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Articles

Editorial
C A Clarke
J Med Genet 1984; 21: 1-3. doi:10.1136/jmg.21.1.1 [PDF] [Request Permissions]

Abstracts of the scientific meeting of the Association of Clinical Cytogeneticists held at the Duncan Guthrie Institute of Medical Genetics, Glasgow, on 4 and 5 May 1983
J Med Genet 1984; 21: 54-56. doi:10.1136/jmg.21.1.54 [PDF] [Request Permissions]

Correspondence

Correspondence
J R Owens, F Harris, and S Walker
J Med Genet 1984; 21: 72-73. doi:10.1136/jmg.21.1.72-a [PDF] [Request Permissions]

Correspondence
T J David
J Med Genet 1984; 21: 74. doi:10.1136/jmg.21.1.74 [PDF] [Request Permissions]

Correspondence
J Med Genet 1984; 21: 76. doi:10.1136/jmg.21.1.76 [PDF] [Request Permissions]

Book Reviews

Premature Chromosome Condensation. Application in Basic, Clinical, and Mutation Research
Martin Bobrow
J Med Genet 1984; 21: 78. doi:10.1136/jmg.21.1.78 [PDF] [Request Permissions]

Minor Malformations in the Neonate
Robin M Winter
J Med Genet 1984; 21: 78-79. doi:10.1136/jmg.21.1.78-a [PDF] [Request Permissions]

Mobile Genetic Elements
R F Mueller
J Med Genet 1984; 21: 79. doi:10.1136/jmg.21.1.79 [PDF] [Request Permissions]

Research Article

The origin of ovarian teratomas.
J M Parrington, L F West, and S Povey
J Med Genet 1984; 21: 4-12. doi:10.1136/jmg.21.1.4 [Abstract] [PDF] [Request Permissions]

Inheritance of idiopathic torsion dystonia among Jews.
N Zilber, A D Korczyn, E Kahana, K Fried, and M Alter
J Med Genet 1984; 21: 13-20. doi:10.1136/jmg.21.1.13 [Abstract] [PDF] [Request Permissions]

What is the incidence of holoprosencephaly?
E S Saunders, D Shortland, and P M Dunn
J Med Genet 1984; 21: 21-26. doi:10.1136/jmg.21.1.21 [Abstract] [PDF] [Request Permissions]

Polymorphic hydroxylation of perhexiline maleate in man.
R G Cooper, D A Evans, and E J Whibley
J Med Genet 1984; 21: 27-33. doi:10.1136/jmg.21.1.27 [Abstract] [PDF] [Request Permissions]

The Marshall and Stickler syndromes: objective rejection of lumping.
S Aymé and M Preus
J Med Genet 1984; 21: 34-38. doi:10.1136/jmg.21.1.34 [Abstract] [PDF] [Request Permissions]

Chromosome variation in perinatal mortality: a survey of 500 cases.
R R Angell, A Sandison, and A D Bain
J Med Genet 1984; 21: 39-44. doi:10.1136/jmg.21.1.39 [Abstract] [PDF] [Request Permissions]

Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population.
I Tierney, D Axworthy, L Smith, and S G Ratcliffe
J Med Genet 1984; 21: 45-51. doi:10.1136/jmg.21.1.45 [Abstract] [PDF] [Request Permissions]

Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation.
T Moross, S S Vaithilingam, S Styles, and H A Gardner
J Med Genet 1984; 21: 52-53. doi:10.1136/jmg.21.1.52 [Abstract] [PDF] [Request Permissions]

De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2).
Y Mu, D L Van Dyke, L Weiss, and S Olgac
J Med Genet 1984; 21: 57-58. doi:10.1136/jmg.21.1.57 [Abstract] [PDF] [Request Permissions]

First trimester fetal karyotyping in twin pregnancy.
B Brambati, A Oldrini, G Simoni, G L Terzoli, L Romitti, F Rossella, and M Ferrari
J Med Genet 1984; 21: 58-60. doi:10.1136/jmg.21.1.58 [Abstract] [PDF] [Request Permissions]

Cat eye syndrome owing to tetrasomy 22pter leads to q11.
G N Wilson, D L Baker, J Schau, and J Parker
J Med Genet 1984; 21: 60-63. doi:10.1136/jmg.21.1.60 [Abstract] [PDF] [Request Permissions]

Triploidy with cyclopia and identical HLA alleles in the parents.
J C Lambert, P Philip, G Charpentier, M Ferrari, M Donzeau, and N Ayraud
J Med Genet 1984; 21: 63-66. doi:10.1136/jmg.21.1.63 [Abstract] [PDF] [Request Permissions]

Concordant monozygotic twins with bilateral renal agenesis.
J R Yates, G Mortimer, J M Connor, and J E Duke
J Med Genet 1984; 21: 66-67. doi:10.1136/jmg.21.1.66 [Abstract] [PDF] [Request Permissions]

Spondylocostal dysostosis.
I D Young and J R Moore
J Med Genet 1984; 21: 68-69. doi:10.1136/jmg.21.1.68 [Abstract] [PDF] [Request Permissions]

Poland-Möbius syndrome associated with dextrocardia.
J M Bosch-Banyeras, A Zuasnabar, A Puig, M Català, and J M Cuatrecasas
J Med Genet 1984; 21: 70-71. doi:10.1136/jmg.21.1.70 [Abstract] [PDF] [Request Permissions]

The incidence of Down's syndrome over a 19-year period.
P A Baird and A D Sadovnick
J Med Genet 1984; 21: 72-73. doi:10.1136/jmg.21.1.72 [PDF] [Request Permissions]

Neural tube defects in sibs of children with tracheo-oesophageal dysraphism.
H G Ilyina and I W Lurie
J Med Genet 1984; 21: 73-74. doi:10.1136/jmg.21.1.73 [PDF] [Request Permissions]

Routine diagnostic detection of the fragile X.
G R Sutherland
J Med Genet 1984; 21: 74-75. doi:10.1136/jmg.21.1.74-a [PDF] [Request Permissions]

Spectrum of anomalies in Fanconi anaemia.
N Akar and S Gözdasoglu
J Med Genet 1984; 21: 75-76. doi:10.1136/jmg.21.1.75 [PDF] [Request Permissions]

Philtrum length and intercommissural distance in newborn infants.
MéhesK
J Med Genet 1984; 21: 76. doi:10.1136/jmg.21.1.76-a [PDF] [Request Permissions]

Genetic heterogeneity in Duchenne muscular dystrophy.
A E Emery
J Med Genet 1984; 21: 76-77. doi:10.1136/jmg.21.1.76-b [PDF] [Request Permissions]

Duchenne muscular dystrophy.
J H Edwards
J Med Genet 1984; 21: 77. doi:10.1136/jmg.21.1.77 [PDF] [Request Permissions]

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	Editorial C A Clarke J Med Genet 1984; 21: 1-3. doi:10.1136/jmg.21.1.1 [PDF] [Request Permissions]

	Abstracts of the scientific meeting of the Association of Clinical Cytogeneticists held at the Duncan Guthrie Institute of Medical Genetics, Glasgow, on 4 and 5 May 1983 J Med Genet 1984; 21: 54-56. doi:10.1136/jmg.21.1.54 [PDF] [Request Permissions]

	Correspondence J R Owens, F Harris, and S Walker J Med Genet 1984; 21: 72-73. doi:10.1136/jmg.21.1.72-a [PDF] [Request Permissions]

	Correspondence T J David J Med Genet 1984; 21: 74. doi:10.1136/jmg.21.1.74 [PDF] [Request Permissions]

	Correspondence J Med Genet 1984; 21: 76. doi:10.1136/jmg.21.1.76 [PDF] [Request Permissions]

	Premature Chromosome Condensation. Application in Basic, Clinical, and Mutation Research Martin Bobrow J Med Genet 1984; 21: 78. doi:10.1136/jmg.21.1.78 [PDF] [Request Permissions]

	Minor Malformations in the Neonate Robin M Winter J Med Genet 1984; 21: 78-79. doi:10.1136/jmg.21.1.78-a [PDF] [Request Permissions]

	Mobile Genetic Elements R F Mueller J Med Genet 1984; 21: 79. doi:10.1136/jmg.21.1.79 [PDF] [Request Permissions]

	The origin of ovarian teratomas. J M Parrington, L F West, and S Povey J Med Genet 1984; 21: 4-12. doi:10.1136/jmg.21.1.4 [Abstract] [PDF] [Request Permissions]

	Inheritance of idiopathic torsion dystonia among Jews. N Zilber, A D Korczyn, E Kahana, K Fried, and M Alter J Med Genet 1984; 21: 13-20. doi:10.1136/jmg.21.1.13 [Abstract] [PDF] [Request Permissions]

	What is the incidence of holoprosencephaly? E S Saunders, D Shortland, and P M Dunn J Med Genet 1984; 21: 21-26. doi:10.1136/jmg.21.1.21 [Abstract] [PDF] [Request Permissions]

	Polymorphic hydroxylation of perhexiline maleate in man. R G Cooper, D A Evans, and E J Whibley J Med Genet 1984; 21: 27-33. doi:10.1136/jmg.21.1.27 [Abstract] [PDF] [Request Permissions]

	The Marshall and Stickler syndromes: objective rejection of lumping. S Aymé and M Preus J Med Genet 1984; 21: 34-38. doi:10.1136/jmg.21.1.34 [Abstract] [PDF] [Request Permissions]

	Chromosome variation in perinatal mortality: a survey of 500 cases. R R Angell, A Sandison, and A D Bain J Med Genet 1984; 21: 39-44. doi:10.1136/jmg.21.1.39 [Abstract] [PDF] [Request Permissions]

	Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population. I Tierney, D Axworthy, L Smith, and S G Ratcliffe J Med Genet 1984; 21: 45-51. doi:10.1136/jmg.21.1.45 [Abstract] [PDF] [Request Permissions]

	Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation. T Moross, S S Vaithilingam, S Styles, and H A Gardner J Med Genet 1984; 21: 52-53. doi:10.1136/jmg.21.1.52 [Abstract] [PDF] [Request Permissions]

	De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2). Y Mu, D L Van Dyke, L Weiss, and S Olgac J Med Genet 1984; 21: 57-58. doi:10.1136/jmg.21.1.57 [Abstract] [PDF] [Request Permissions]

	First trimester fetal karyotyping in twin pregnancy. B Brambati, A Oldrini, G Simoni, G L Terzoli, L Romitti, F Rossella, and M Ferrari J Med Genet 1984; 21: 58-60. doi:10.1136/jmg.21.1.58 [Abstract] [PDF] [Request Permissions]

	Cat eye syndrome owing to tetrasomy 22pter leads to q11. G N Wilson, D L Baker, J Schau, and J Parker J Med Genet 1984; 21: 60-63. doi:10.1136/jmg.21.1.60 [Abstract] [PDF] [Request Permissions]

	Triploidy with cyclopia and identical HLA alleles in the parents. J C Lambert, P Philip, G Charpentier, M Ferrari, M Donzeau, and N Ayraud J Med Genet 1984; 21: 63-66. doi:10.1136/jmg.21.1.63 [Abstract] [PDF] [Request Permissions]

	Concordant monozygotic twins with bilateral renal agenesis. J R Yates, G Mortimer, J M Connor, and J E Duke J Med Genet 1984; 21: 66-67. doi:10.1136/jmg.21.1.66 [Abstract] [PDF] [Request Permissions]

	Spondylocostal dysostosis. I D Young and J R Moore J Med Genet 1984; 21: 68-69. doi:10.1136/jmg.21.1.68 [Abstract] [PDF] [Request Permissions]

	Poland-Möbius syndrome associated with dextrocardia. J M Bosch-Banyeras, A Zuasnabar, A Puig, M Català, and J M Cuatrecasas J Med Genet 1984; 21: 70-71. doi:10.1136/jmg.21.1.70 [Abstract] [PDF] [Request Permissions]

	The incidence of Down's syndrome over a 19-year period. P A Baird and A D Sadovnick J Med Genet 1984; 21: 72-73. doi:10.1136/jmg.21.1.72 [PDF] [Request Permissions]

	Neural tube defects in sibs of children with tracheo-oesophageal dysraphism. H G Ilyina and I W Lurie J Med Genet 1984; 21: 73-74. doi:10.1136/jmg.21.1.73 [PDF] [Request Permissions]

	Routine diagnostic detection of the fragile X. G R Sutherland J Med Genet 1984; 21: 74-75. doi:10.1136/jmg.21.1.74-a [PDF] [Request Permissions]

	Spectrum of anomalies in Fanconi anaemia. N Akar and S Gözdasoglu J Med Genet 1984; 21: 75-76. doi:10.1136/jmg.21.1.75 [PDF] [Request Permissions]

	Philtrum length and intercommissural distance in newborn infants. MéhesK J Med Genet 1984; 21: 76. doi:10.1136/jmg.21.1.76-a [PDF] [Request Permissions]

	Genetic heterogeneity in Duchenne muscular dystrophy. A E Emery J Med Genet 1984; 21: 76-77. doi:10.1136/jmg.21.1.76-b [PDF] [Request Permissions]

	Duchenne muscular dystrophy. J H Edwards J Med Genet 1984; 21: 77. doi:10.1136/jmg.21.1.77 [PDF] [Request Permissions]