J Med Genet -- Table of Contents (22 [1])

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February 1985 (Volume 22, Number 1). [Index by author]

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Articles

Editorial
C A Clarke
J Med Genet 1985; 22: 1-5. doi:10.1136/jmg.22.1.1 [PDF] [Request Permissions]

Case Reports

Fraser syndrome presenting as monozygotic twins with bilateral renal agenesis
G Mortimer, H P McEwan, and J R W Yates
J Med Genet 1985; 22: 76-78. doi:10.1136/jmg.22.1.76 [Abstract] [PDF] [Request Permissions]

Research Article

Discordant sex in one of three monozygotic triplets.
B Dallapiccola, C Stomeo, G Ferranti, A Di Lecce, and M Purpura
J Med Genet 1985; 22: 6-11. doi:10.1136/jmg.22.1.6 [Abstract] [PDF] [Request Permissions]

The estimation of recurrence risks in monogenic disorders using flanking marker loci.
R M Winter
J Med Genet 1985; 22: 12-15. doi:10.1136/jmg.22.1.12 [Abstract] [PDF] [Request Permissions]

Investigation of human chromosome polymorphisms by scanning electron microscopy.
C J Harrison, E M Jack, T D Allen, and R Harris
J Med Genet 1985; 22: 16-23. doi:10.1136/jmg.22.1.16 [Abstract] [PDF] [Request Permissions]

The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect?
R H Lindenbaum, M Hultén, A McDermott, and M Seabright
J Med Genet 1985; 22: 24-28. doi:10.1136/jmg.22.1.24 [Abstract] [PDF] [Request Permissions]

Reduced penetrance in tuberous sclerosis.
M Baraitser and M A Patton
J Med Genet 1985; 22: 29-31. doi:10.1136/jmg.22.1.29 [Abstract] [PDF] [Request Permissions]

Increased frequency of lymphocytic mitotic non-disjunction in recurrent spontaneous aborters.
R C Juberg, J Knops, and P N Mowrey
J Med Genet 1985; 22: 32-35. doi:10.1136/jmg.22.1.32 [Abstract] [PDF] [Request Permissions]

Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome.
S A Al-Awadi, A S Teebi, T I Farag, K M Naguib, and M Y el-Khalifa
J Med Genet 1985; 22: 36-38. doi:10.1136/jmg.22.1.36 [Abstract] [PDF] [Request Permissions]

Trigonocephaly and the Opitz C syndrome.
C Sargent, J Burn, M Baraitser, and M E Pembrey
J Med Genet 1985; 22: 39-45. doi:10.1136/jmg.22.1.39 [Abstract] [PDF] [Request Permissions]

Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.
R Bernstein, J Isdale, M Pinto, J Du Toit Zaaijman, and T Jenkins
J Med Genet 1985; 22: 46-53. doi:10.1136/jmg.22.1.46 [Abstract] [PDF] [Request Permissions]

beta (+)-Thalassaemia in the Po river delta region (northern Italy): genotype and beta globin synthesis.
L Del Senno, M Pirastu, R Barbieri, F Bernardi, D Buzzoni, G Marchetti, C Perrotta, C Vullo, Y W Kan, and F Conconi
J Med Genet 1985; 22: 54-58. doi:10.1136/jmg.22.1.54 [Abstract] [PDF] [Request Permissions]

A family with three independent autosomal translocations associated with 7q32----7qter syndrome.
H N Bass, R S Sparkes, M M Lessner, M Fox, B Phoenix, and J Bernar
J Med Genet 1985; 22: 59-63. doi:10.1136/jmg.22.1.59 [Abstract] [PDF] [Request Permissions]

De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells.
T Motegi, K Watanabe, N Nakamura, T Hasegawa, and Y Yanagawa
J Med Genet 1985; 22: 64-66. doi:10.1136/jmg.22.1.64 [Abstract] [PDF] [Request Permissions]

A complex balanced rearrangement involving four chromosomes in an azoospermic man.
M T Rodriguez, M J Martin, and J A Abrisqueta
J Med Genet 1985; 22: 66-67. doi:10.1136/jmg.22.1.66 [Abstract] [PDF] [Request Permissions]

A child with a recombinant of chromosome 8 inherited from her carrier mother.
I C Barnes, D Kumar, and R J Bell
J Med Genet 1985; 22: 67-70. doi:10.1136/jmg.22.1.67 [Abstract] [PDF] [Request Permissions]

'Pure' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1).
G Plessis, J Couturier, C Turleau, S Despoisses, and J Delavenne
J Med Genet 1985; 22: 70-73. doi:10.1136/jmg.22.1.70 [Abstract] [PDF] [Request Permissions]

Partial trisomy 12q24.31----qter.
E H Tajara, M Varella-Garcia, and A C Gusson
J Med Genet 1985; 22: 73-76. doi:10.1136/jmg.22.1.73 [Abstract] [PDF] [Request Permissions]

Familial opposable triphalangeal thumbs associated with duplication of the big toes.
P Merlob, M Grunebaum, and S H Reisner
J Med Genet 1985; 22: 78-80. doi:10.1136/jmg.22.1.78 [Abstract] [PDF] [Request Permissions]

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	Editorial C A Clarke J Med Genet 1985; 22: 1-5. doi:10.1136/jmg.22.1.1 [PDF] [Request Permissions]

	Fraser syndrome presenting as monozygotic twins with bilateral renal agenesis G Mortimer, H P McEwan, and J R W Yates J Med Genet 1985; 22: 76-78. doi:10.1136/jmg.22.1.76 [Abstract] [PDF] [Request Permissions]

	Discordant sex in one of three monozygotic triplets. B Dallapiccola, C Stomeo, G Ferranti, A Di Lecce, and M Purpura J Med Genet 1985; 22: 6-11. doi:10.1136/jmg.22.1.6 [Abstract] [PDF] [Request Permissions]

	The estimation of recurrence risks in monogenic disorders using flanking marker loci. R M Winter J Med Genet 1985; 22: 12-15. doi:10.1136/jmg.22.1.12 [Abstract] [PDF] [Request Permissions]

	Investigation of human chromosome polymorphisms by scanning electron microscopy. C J Harrison, E M Jack, T D Allen, and R Harris J Med Genet 1985; 22: 16-23. doi:10.1136/jmg.22.1.16 [Abstract] [PDF] [Request Permissions]

	The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect? R H Lindenbaum, M Hultén, A McDermott, and M Seabright J Med Genet 1985; 22: 24-28. doi:10.1136/jmg.22.1.24 [Abstract] [PDF] [Request Permissions]

	Reduced penetrance in tuberous sclerosis. M Baraitser and M A Patton J Med Genet 1985; 22: 29-31. doi:10.1136/jmg.22.1.29 [Abstract] [PDF] [Request Permissions]

	Increased frequency of lymphocytic mitotic non-disjunction in recurrent spontaneous aborters. R C Juberg, J Knops, and P N Mowrey J Med Genet 1985; 22: 32-35. doi:10.1136/jmg.22.1.32 [Abstract] [PDF] [Request Permissions]

	Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. S A Al-Awadi, A S Teebi, T I Farag, K M Naguib, and M Y el-Khalifa J Med Genet 1985; 22: 36-38. doi:10.1136/jmg.22.1.36 [Abstract] [PDF] [Request Permissions]

	Trigonocephaly and the Opitz C syndrome. C Sargent, J Burn, M Baraitser, and M E Pembrey J Med Genet 1985; 22: 39-45. doi:10.1136/jmg.22.1.39 [Abstract] [PDF] [Request Permissions]

	Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases. R Bernstein, J Isdale, M Pinto, J Du Toit Zaaijman, and T Jenkins J Med Genet 1985; 22: 46-53. doi:10.1136/jmg.22.1.46 [Abstract] [PDF] [Request Permissions]

	beta (+)-Thalassaemia in the Po river delta region (northern Italy): genotype and beta globin synthesis. L Del Senno, M Pirastu, R Barbieri, F Bernardi, D Buzzoni, G Marchetti, C Perrotta, C Vullo, Y W Kan, and F Conconi J Med Genet 1985; 22: 54-58. doi:10.1136/jmg.22.1.54 [Abstract] [PDF] [Request Permissions]

	A family with three independent autosomal translocations associated with 7q32----7qter syndrome. H N Bass, R S Sparkes, M M Lessner, M Fox, B Phoenix, and J Bernar J Med Genet 1985; 22: 59-63. doi:10.1136/jmg.22.1.59 [Abstract] [PDF] [Request Permissions]

	De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells. T Motegi, K Watanabe, N Nakamura, T Hasegawa, and Y Yanagawa J Med Genet 1985; 22: 64-66. doi:10.1136/jmg.22.1.64 [Abstract] [PDF] [Request Permissions]

	A complex balanced rearrangement involving four chromosomes in an azoospermic man. M T Rodriguez, M J Martin, and J A Abrisqueta J Med Genet 1985; 22: 66-67. doi:10.1136/jmg.22.1.66 [Abstract] [PDF] [Request Permissions]

	A child with a recombinant of chromosome 8 inherited from her carrier mother. I C Barnes, D Kumar, and R J Bell J Med Genet 1985; 22: 67-70. doi:10.1136/jmg.22.1.67 [Abstract] [PDF] [Request Permissions]

	'Pure' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1). G Plessis, J Couturier, C Turleau, S Despoisses, and J Delavenne J Med Genet 1985; 22: 70-73. doi:10.1136/jmg.22.1.70 [Abstract] [PDF] [Request Permissions]

	Partial trisomy 12q24.31----qter. E H Tajara, M Varella-Garcia, and A C Gusson J Med Genet 1985; 22: 73-76. doi:10.1136/jmg.22.1.73 [Abstract] [PDF] [Request Permissions]

	Familial opposable triphalangeal thumbs associated with duplication of the big toes. P Merlob, M Grunebaum, and S H Reisner J Med Genet 1985; 22: 78-80. doi:10.1136/jmg.22.1.78 [Abstract] [PDF] [Request Permissions]