J Med Genet -- Table of Contents (20 [2])

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April 1983 (Volume 20, Number 2). [Index by author]

		Articles Articles Book Reviews Case Reports Research Article

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Articles

Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome
J Burn and N Martin
J Med Genet 1983; 20: 97-99. doi:10.1136/jmg.20.2.97 [Abstract] [PDF] [Request Permissions]

Hypostatic ulcers in 47,XXY Klinefelter's syndrome
Marion S Verp, Joe Leigh Simpson, and Alice O Martin
J Med Genet 1983; 20: 100-101. doi:10.1136/jmg.20.2.100 [Abstract] [PDF] [Request Permissions]

A recessively inherited windmill-vane camptodactyly/ichthyosis syndrome
M Baraitser, J Burn, and J Fixsen
J Med Genet 1983; 20: 125-127. doi:10.1136/jmg.20.2.125 [Abstract] [PDF] [Request Permissions]

Recessively inherited brachydactyly type C
Michael Baraitser and John Burn
J Med Genet 1983; 20: 128-129. doi:10.1136/jmg.20.2.128 [Abstract] [PDF] [Request Permissions]

Book Reviews

Huntington's Chorea
S Bundey
J Med Genet 1983; 20: 158-159. doi:10.1136/jmg.20.2.158 [PDF] [Request Permissions]

Clinical, Structural, and Biochemical Advances in Hereditary Eye Disorders
Barrie Jay
J Med Genet 1983; 20: 159. doi:10.1136/jmg.20.2.159 [PDF] [Request Permissions]

Organic Acids in Man. The Analytical Chemistry, Biochemistry and Diagnosis of the Organic Acidurias
J V Leonard
J Med Genet 1983; 20: 159-160. doi:10.1136/jmg.20.2.159-a [PDF] [Request Permissions]

Case Reports

Graves' disease and Down's syndrome
A J McCulloch, F Clark, and N R Steele
J Med Genet 1983; 20: 133-134. doi:10.1136/jmg.20.2.133 [Abstract] [PDF] [Request Permissions]

De novo tandem duplication 17p11 $->$ cen
Z Docherty, M A Hultén, and M M Honeyman
J Med Genet 1983; 20: 138-142. doi:10.1136/jmg.20.2.138 [Abstract] [PDF] [Request Permissions]

Tetrasomy 18p: tentative delineation of a syndrome
Denise A S Batista, Angela M Vianna-Morgante, and A Richieri-Costa
J Med Genet 1983; 20: 144-147. doi:10.1136/jmg.20.2.144 [Abstract] [PDF] [Request Permissions]

Research Article

The effect of the male contraceptive agent Gossypol on human lymphocytes in vitro: traditional chromosome breakage, micronuclei, sister chromatid exchange, and cell kinetics.
Y C Tsui, M R Creasy, and M A Hultén
J Med Genet 1983; 20: 81-85. doi:10.1136/jmg.20.2.81 [Abstract] [PDF] [Request Permissions]

Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.
N R Pratt and D T Bulugahapitiya
J Med Genet 1983; 20: 86-89. doi:10.1136/jmg.20.2.86 [Abstract] [PDF] [Request Permissions]

The incidence of Down's syndrome over a 19-year period with special reference to maternal age.
J R Owens, F Harris, S Walker, E McAllister, and L West
J Med Genet 1983; 20: 90-93. doi:10.1136/jmg.20.2.90 [Abstract] [PDF] [Request Permissions]

Down's syndrome in twins of unlike sex.
A Avni, J Amir, E Wilunsky, M B Katznelson, and S H Reisner
J Med Genet 1983; 20: 94-96. doi:10.1136/jmg.20.2.94 [Abstract] [PDF] [Request Permissions]

Racial variation of a non-fluorescent segment of the Y chromosome in East Indians.
R S Verma, A Huq, and H Dosik
J Med Genet 1983; 20: 102-106. doi:10.1136/jmg.20.2.102 [Abstract] [PDF] [Request Permissions]

Partial monosomy of chromosome 10 short arms.
A Gencík, U Brönniman, R Tobler, and P Auf der Maur
J Med Genet 1983; 20: 107-111. doi:10.1136/jmg.20.2.107 [Abstract] [PDF] [Request Permissions]

Ten genetic polymorphisms in bladder cancer.
R A Cartwright, R Adib, I Appleyard, J G Coxon, R W Glashan, B Richards, M R Robinson, E Sunderland, and D Barham-Hall
J Med Genet 1983; 20: 112-116. doi:10.1136/jmg.20.2.112 [Abstract] [PDF] [Request Permissions]

Spondyloepiphyseal dysplasia.
J Vanek
J Med Genet 1983; 20: 117-121. doi:10.1136/jmg.20.2.117 [Abstract] [PDF] [Request Permissions]

X linked recessive inheritance of agenesis of the corpus callosum.
P Kaplan
J Med Genet 1983; 20: 122-124. doi:10.1136/jmg.20.2.122 [Abstract] [PDF] [Request Permissions]

Philtrum length and intercommissural distance in newborn infants.
Y Sivan, P Merlob, and S H Reisner
J Med Genet 1983; 20: 130-131. doi:10.1136/jmg.20.2.130 [Abstract] [PDF] [Request Permissions]

Antenatal detection of grossly distended bladder owing to absence of the urethra in a fetus with trisomy 18.
N C Nevin, J Nevin, J M Dunlop, and M Gray
J Med Genet 1983; 20: 132-133. doi:10.1136/jmg.20.2.132 [Abstract] [PDF] [Request Permissions]

Aberrant melanoblast migration associated with trisomy 18 mosaicism.
J Chemke, S Rappaport, and R Etrog
J Med Genet 1983; 20: 135-137. doi:10.1136/jmg.20.2.135 [Abstract] [PDF] [Request Permissions]

Ring chromosome 10 and its clinical features.
H Nakai, M Adachi, N Katsushima, N Yamazaki, M Sakamoto, and K Tada
J Med Genet 1983; 20: 142-144. doi:10.1136/jmg.20.2.142 [Abstract] [PDF] [Request Permissions]

Distal monosomy 14 not associated with ring formation.
S J Hreidarsson and J Stamberg
J Med Genet 1983; 20: 147-149. doi:10.1136/jmg.20.2.147 [Abstract] [PDF] [Request Permissions]

A case of the G syndrome.
I D Young
J Med Genet 1983; 20: 150. doi:10.1136/jmg.20.2.150 [PDF] [Request Permissions]

Translocation t(1;20)(q21;q13) in an azoospermic man.
A Antonelli, A Del Marco, P Gabellini, F Gigliani, L Marcucci, and P Petrinelli
J Med Genet 1983; 20: 151. doi:10.1136/jmg.20.2.151 [PDF] [Request Permissions]

Familial Poland anomaly.
R B Lowry and J P Bouvet
J Med Genet 1983; 20: 152-154. doi:10.1136/jmg.20.2.152 [PDF] [Request Permissions]

Craniosynostosis.
A Hunter
J Med Genet 1983; 20: 154. doi:10.1136/jmg.20.2.154 [PDF] [Request Permissions]

Pericentric inversion of chromosome 13.
H Hauksdóttir, A Arnardóttir, M Steinarsdóttir, E Gudmundsdóttir, S Halldórsson, A Gunnarsson, and M Mikkelsen
J Med Genet 1983; 20: 154-155. doi:10.1136/jmg.20.2.154-a [PDF] [Request Permissions]

Adjacent 2 translocation involving 13q and 21q.
F Prieto and L Badia
J Med Genet 1983; 20: 155. doi:10.1136/jmg.20.2.155 [PDF] [Request Permissions]

Pyloric stenosis: children vs sibs.
C O Carter, V Hickman, and K Evans
J Med Genet 1983; 20: 155-156. doi:10.1136/jmg.20.2.155-a [PDF] [Request Permissions]

Delineation of trisomy 9 syndrome.
D R Romain and J Sullivan
J Med Genet 1983; 20: 156-157. doi:10.1136/jmg.20.2.156 [PDF] [Request Permissions]

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	Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome J Burn and N Martin J Med Genet 1983; 20: 97-99. doi:10.1136/jmg.20.2.97 [Abstract] [PDF] [Request Permissions]

	Hypostatic ulcers in 47,XXY Klinefelter's syndrome Marion S Verp, Joe Leigh Simpson, and Alice O Martin J Med Genet 1983; 20: 100-101. doi:10.1136/jmg.20.2.100 [Abstract] [PDF] [Request Permissions]

	A recessively inherited windmill-vane camptodactyly/ichthyosis syndrome M Baraitser, J Burn, and J Fixsen J Med Genet 1983; 20: 125-127. doi:10.1136/jmg.20.2.125 [Abstract] [PDF] [Request Permissions]

	Recessively inherited brachydactyly type C Michael Baraitser and John Burn J Med Genet 1983; 20: 128-129. doi:10.1136/jmg.20.2.128 [Abstract] [PDF] [Request Permissions]

	Huntington's Chorea S Bundey J Med Genet 1983; 20: 158-159. doi:10.1136/jmg.20.2.158 [PDF] [Request Permissions]

	Clinical, Structural, and Biochemical Advances in Hereditary Eye Disorders Barrie Jay J Med Genet 1983; 20: 159. doi:10.1136/jmg.20.2.159 [PDF] [Request Permissions]

	Organic Acids in Man. The Analytical Chemistry, Biochemistry and Diagnosis of the Organic Acidurias J V Leonard J Med Genet 1983; 20: 159-160. doi:10.1136/jmg.20.2.159-a [PDF] [Request Permissions]

	Graves' disease and Down's syndrome A J McCulloch, F Clark, and N R Steele J Med Genet 1983; 20: 133-134. doi:10.1136/jmg.20.2.133 [Abstract] [PDF] [Request Permissions]

	De novo tandem duplication 17p11 $->$ cen Z Docherty, M A Hultén, and M M Honeyman J Med Genet 1983; 20: 138-142. doi:10.1136/jmg.20.2.138 [Abstract] [PDF] [Request Permissions]

	Tetrasomy 18p: tentative delineation of a syndrome Denise A S Batista, Angela M Vianna-Morgante, and A Richieri-Costa J Med Genet 1983; 20: 144-147. doi:10.1136/jmg.20.2.144 [Abstract] [PDF] [Request Permissions]

	The effect of the male contraceptive agent Gossypol on human lymphocytes in vitro: traditional chromosome breakage, micronuclei, sister chromatid exchange, and cell kinetics. Y C Tsui, M R Creasy, and M A Hultén J Med Genet 1983; 20: 81-85. doi:10.1136/jmg.20.2.81 [Abstract] [PDF] [Request Permissions]

	Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q. N R Pratt and D T Bulugahapitiya J Med Genet 1983; 20: 86-89. doi:10.1136/jmg.20.2.86 [Abstract] [PDF] [Request Permissions]

	The incidence of Down's syndrome over a 19-year period with special reference to maternal age. J R Owens, F Harris, S Walker, E McAllister, and L West J Med Genet 1983; 20: 90-93. doi:10.1136/jmg.20.2.90 [Abstract] [PDF] [Request Permissions]

	Down's syndrome in twins of unlike sex. A Avni, J Amir, E Wilunsky, M B Katznelson, and S H Reisner J Med Genet 1983; 20: 94-96. doi:10.1136/jmg.20.2.94 [Abstract] [PDF] [Request Permissions]

	Racial variation of a non-fluorescent segment of the Y chromosome in East Indians. R S Verma, A Huq, and H Dosik J Med Genet 1983; 20: 102-106. doi:10.1136/jmg.20.2.102 [Abstract] [PDF] [Request Permissions]

	Partial monosomy of chromosome 10 short arms. A Gencík, U Brönniman, R Tobler, and P Auf der Maur J Med Genet 1983; 20: 107-111. doi:10.1136/jmg.20.2.107 [Abstract] [PDF] [Request Permissions]

	Ten genetic polymorphisms in bladder cancer. R A Cartwright, R Adib, I Appleyard, J G Coxon, R W Glashan, B Richards, M R Robinson, E Sunderland, and D Barham-Hall J Med Genet 1983; 20: 112-116. doi:10.1136/jmg.20.2.112 [Abstract] [PDF] [Request Permissions]

	Spondyloepiphyseal dysplasia. J Vanek J Med Genet 1983; 20: 117-121. doi:10.1136/jmg.20.2.117 [Abstract] [PDF] [Request Permissions]

	X linked recessive inheritance of agenesis of the corpus callosum. P Kaplan J Med Genet 1983; 20: 122-124. doi:10.1136/jmg.20.2.122 [Abstract] [PDF] [Request Permissions]

	Philtrum length and intercommissural distance in newborn infants. Y Sivan, P Merlob, and S H Reisner J Med Genet 1983; 20: 130-131. doi:10.1136/jmg.20.2.130 [Abstract] [PDF] [Request Permissions]

	Antenatal detection of grossly distended bladder owing to absence of the urethra in a fetus with trisomy 18. N C Nevin, J Nevin, J M Dunlop, and M Gray J Med Genet 1983; 20: 132-133. doi:10.1136/jmg.20.2.132 [Abstract] [PDF] [Request Permissions]

	Aberrant melanoblast migration associated with trisomy 18 mosaicism. J Chemke, S Rappaport, and R Etrog J Med Genet 1983; 20: 135-137. doi:10.1136/jmg.20.2.135 [Abstract] [PDF] [Request Permissions]

	Ring chromosome 10 and its clinical features. H Nakai, M Adachi, N Katsushima, N Yamazaki, M Sakamoto, and K Tada J Med Genet 1983; 20: 142-144. doi:10.1136/jmg.20.2.142 [Abstract] [PDF] [Request Permissions]

	Distal monosomy 14 not associated with ring formation. S J Hreidarsson and J Stamberg J Med Genet 1983; 20: 147-149. doi:10.1136/jmg.20.2.147 [Abstract] [PDF] [Request Permissions]

	A case of the G syndrome. I D Young J Med Genet 1983; 20: 150. doi:10.1136/jmg.20.2.150 [PDF] [Request Permissions]

	Translocation t(1;20)(q21;q13) in an azoospermic man. A Antonelli, A Del Marco, P Gabellini, F Gigliani, L Marcucci, and P Petrinelli J Med Genet 1983; 20: 151. doi:10.1136/jmg.20.2.151 [PDF] [Request Permissions]

	Familial Poland anomaly. R B Lowry and J P Bouvet J Med Genet 1983; 20: 152-154. doi:10.1136/jmg.20.2.152 [PDF] [Request Permissions]

	Craniosynostosis. A Hunter J Med Genet 1983; 20: 154. doi:10.1136/jmg.20.2.154 [PDF] [Request Permissions]

	Pericentric inversion of chromosome 13. H Hauksdóttir, A Arnardóttir, M Steinarsdóttir, E Gudmundsdóttir, S Halldórsson, A Gunnarsson, and M Mikkelsen J Med Genet 1983; 20: 154-155. doi:10.1136/jmg.20.2.154-a [PDF] [Request Permissions]

	Adjacent 2 translocation involving 13q and 21q. F Prieto and L Badia J Med Genet 1983; 20: 155. doi:10.1136/jmg.20.2.155 [PDF] [Request Permissions]

	Pyloric stenosis: children vs sibs. C O Carter, V Hickman, and K Evans J Med Genet 1983; 20: 155-156. doi:10.1136/jmg.20.2.155-a [PDF] [Request Permissions]

	Delineation of trisomy 9 syndrome. D R Romain and J Sullivan J Med Genet 1983; 20: 156-157. doi:10.1136/jmg.20.2.156 [PDF] [Request Permissions]