J Med Genet -- Table of Contents (21 [5])

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October 1984 (Volume 21, Number 5). [Index by author]

		Articles Miscellaneous Articles Research Article

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Articles

Editorial
C A Clarke
J Med Genet 1984; 21: 321-324. doi:10.1136/jmg.21.5.321 [PDF] [Request Permissions]

Autosomal recessive severe congenital microcephaly: antenatal ultrasonographic diagnosis and head growth from 15 to 24 weeks of gestation
A Schinzel and M Litschgi
J Med Genet 1984; 21: 355-358. doi:10.1136/jmg.21.5.355 [Abstract] [PDF] [Request Permissions]

Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance
J S Fitzsimmons, V Zaldua, and A R Chrispin
J Med Genet 1984; 21: 364-368. doi:10.1136/jmg.21.5.364 [Abstract] [PDF] [Request Permissions]

Parietal foramina in Saethre-Chotzen syndrome
E M Thompson, M Baraitser, and R D Hayward
J Med Genet 1984; 21: 369-372. doi:10.1136/jmg.21.5.369 [Abstract] [PDF] [Request Permissions]

Abstracts of the scientific meeting of the Association of Clinical Cytogeneticists held at the Institute of Child Health, London, on 2 and 3 May 1984
J Med Genet 1984; 21: 374-376. doi:10.1136/jmg.21.5.374 [PDF] [Request Permissions]

Miscellaneous

Correction
J Med Genet 1984; 21: 376. doi:10.1136/jmg.21.5.376 [PDF] [Request Permissions]

Research Article

Periconceptional vitamin supplementation and the prevention of neural tube defects in south-east England and Northern Ireland.
M J Seller and N C Nevin
J Med Genet 1984; 21: 325-330. doi:10.1136/jmg.21.5.325 [Abstract] [PDF] [Request Permissions]

The femoral hypoplasia-unusual facies syndrome.
J Burn, R M Winter, M Baraitser, C M Hall, and J Fixsen
J Med Genet 1984; 21: 331-340. doi:10.1136/jmg.21.5.331 [Abstract] [PDF] [Request Permissions]

Hereditary coproporphyria: incidence in a large English family.
J Andrews, H Erdjument, and D C Nicholson
J Med Genet 1984; 21: 341-349. doi:10.1136/jmg.21.5.341 [Abstract] [PDF] [Request Permissions]

Anencephaly: a retrospective analysis in Singapore. 1976 to 1980.
K C Tan, S S Ratnam, S R Kottegoda, and S M Karim
J Med Genet 1984; 21: 350-354. doi:10.1136/jmg.21.5.350 [Abstract] [PDF] [Request Permissions]

Antenatal diagnosis of mucopolysaccharidosis type I (Hurler's disease) is not possible by electron microscopy of uncultured amniotic fluid cells.
G Hug, S Soukup, G Chuck, and M Ryan
J Med Genet 1984; 21: 359-363. doi:10.1136/jmg.21.5.359 [Abstract] [PDF] [Request Permissions]

Deleted X chromosomes in patients with the fragile X syndrome.
M Fitchett and M Seabright
J Med Genet 1984; 21: 373. doi:10.1136/jmg.21.5.373 [PDF] [Request Permissions]

Biamnial alpha fetoprotein concentration in twins, one with multiple malformations.
J Huber, P Wagenbichler, and F Bartsch
J Med Genet 1984; 21: 377-379. doi:10.1136/jmg.21.5.377 [Abstract] [PDF] [Request Permissions]

A familial insertion involving an active nucleolar organiser within chromosome 12.
J L Watt, D A Couzin, D J Lloyd, G S Stephen, and E McKay
J Med Genet 1984; 21: 379-384. doi:10.1136/jmg.21.5.379 [Abstract] [PDF] [Request Permissions]

Partial trisomy 16 as a result of familial 16;20 translocation.
E V Davison and J R Beesley
J Med Genet 1984; 21: 384-386. doi:10.1136/jmg.21.5.384 [Abstract] [PDF] [Request Permissions]

A malformed girl with duplication of chromosome 9q.
Y Nakahori and Y Nakagome
J Med Genet 1984; 21: 387-388. doi:10.1136/jmg.21.5.387 [Abstract] [PDF] [Request Permissions]

Familial centric fission of chromosome 4.
G Del Porto, C Di Fusco, M Baldi, P Grammatico, and E D'Alessandro
J Med Genet 1984; 21: 388-391. doi:10.1136/jmg.21.5.388 [Abstract] [PDF] [Request Permissions]

Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement.
A T Tharapel, R Redheendran, C B Mankinen, and M K Kukolich
J Med Genet 1984; 21: 391-395. doi:10.1136/jmg.21.5.391 [Abstract] [PDF] [Request Permissions]

Pericentric inversion inv(3)(p11q21).
F S Spedicato, A Dicomite, and R Gaudio
J Med Genet 1984; 21: 396. doi:10.1136/jmg.21.5.396 [PDF] [Request Permissions]

A case of 2-methylacetoacetyl CoA thiolase deficiency with coincidental chromosome abnormalities.
R G Gray, G W Lowther, J M Littlewood, B Middleton, and M J Bennett
J Med Genet 1984; 21: 397. doi:10.1136/jmg.21.5.397 [PDF] [Request Permissions]

Freeman-Sheldon (whistling face) syndrome in a Turner mosaic.
M Bajaj and L Mehta
J Med Genet 1984; 21: 398. doi:10.1136/jmg.21.5.398 [PDF] [Request Permissions]

Interstitial deletion of chromosome band 13q14 associated with squamous cell carcinoma.
M Fitchett, R G Downing, D A Hopkinson, and A C Bayley
J Med Genet 1984; 21: 399. doi:10.1136/jmg.21.5.399 [PDF] [Request Permissions]

Ring chromosome 1 associated with radial ray defect.
R J Gardner, R M Grindley, W E Chewings, and J E Clarkson
J Med Genet 1984; 21: 400. doi:10.1136/jmg.21.5.400 [PDF] [Request Permissions]

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	Editorial C A Clarke J Med Genet 1984; 21: 321-324. doi:10.1136/jmg.21.5.321 [PDF] [Request Permissions]

	Autosomal recessive severe congenital microcephaly: antenatal ultrasonographic diagnosis and head growth from 15 to 24 weeks of gestation A Schinzel and M Litschgi J Med Genet 1984; 21: 355-358. doi:10.1136/jmg.21.5.355 [Abstract] [PDF] [Request Permissions]

	Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance J S Fitzsimmons, V Zaldua, and A R Chrispin J Med Genet 1984; 21: 364-368. doi:10.1136/jmg.21.5.364 [Abstract] [PDF] [Request Permissions]

	Parietal foramina in Saethre-Chotzen syndrome E M Thompson, M Baraitser, and R D Hayward J Med Genet 1984; 21: 369-372. doi:10.1136/jmg.21.5.369 [Abstract] [PDF] [Request Permissions]

	Abstracts of the scientific meeting of the Association of Clinical Cytogeneticists held at the Institute of Child Health, London, on 2 and 3 May 1984 J Med Genet 1984; 21: 374-376. doi:10.1136/jmg.21.5.374 [PDF] [Request Permissions]

	Correction J Med Genet 1984; 21: 376. doi:10.1136/jmg.21.5.376 [PDF] [Request Permissions]

	Periconceptional vitamin supplementation and the prevention of neural tube defects in south-east England and Northern Ireland. M J Seller and N C Nevin J Med Genet 1984; 21: 325-330. doi:10.1136/jmg.21.5.325 [Abstract] [PDF] [Request Permissions]

	The femoral hypoplasia-unusual facies syndrome. J Burn, R M Winter, M Baraitser, C M Hall, and J Fixsen J Med Genet 1984; 21: 331-340. doi:10.1136/jmg.21.5.331 [Abstract] [PDF] [Request Permissions]

	Hereditary coproporphyria: incidence in a large English family. J Andrews, H Erdjument, and D C Nicholson J Med Genet 1984; 21: 341-349. doi:10.1136/jmg.21.5.341 [Abstract] [PDF] [Request Permissions]

	Anencephaly: a retrospective analysis in Singapore. 1976 to 1980. K C Tan, S S Ratnam, S R Kottegoda, and S M Karim J Med Genet 1984; 21: 350-354. doi:10.1136/jmg.21.5.350 [Abstract] [PDF] [Request Permissions]

	Antenatal diagnosis of mucopolysaccharidosis type I (Hurler's disease) is not possible by electron microscopy of uncultured amniotic fluid cells. G Hug, S Soukup, G Chuck, and M Ryan J Med Genet 1984; 21: 359-363. doi:10.1136/jmg.21.5.359 [Abstract] [PDF] [Request Permissions]

	Deleted X chromosomes in patients with the fragile X syndrome. M Fitchett and M Seabright J Med Genet 1984; 21: 373. doi:10.1136/jmg.21.5.373 [PDF] [Request Permissions]

	Biamnial alpha fetoprotein concentration in twins, one with multiple malformations. J Huber, P Wagenbichler, and F Bartsch J Med Genet 1984; 21: 377-379. doi:10.1136/jmg.21.5.377 [Abstract] [PDF] [Request Permissions]

	A familial insertion involving an active nucleolar organiser within chromosome 12. J L Watt, D A Couzin, D J Lloyd, G S Stephen, and E McKay J Med Genet 1984; 21: 379-384. doi:10.1136/jmg.21.5.379 [Abstract] [PDF] [Request Permissions]

	Partial trisomy 16 as a result of familial 16;20 translocation. E V Davison and J R Beesley J Med Genet 1984; 21: 384-386. doi:10.1136/jmg.21.5.384 [Abstract] [PDF] [Request Permissions]

	A malformed girl with duplication of chromosome 9q. Y Nakahori and Y Nakagome J Med Genet 1984; 21: 387-388. doi:10.1136/jmg.21.5.387 [Abstract] [PDF] [Request Permissions]

	Familial centric fission of chromosome 4. G Del Porto, C Di Fusco, M Baldi, P Grammatico, and E D'Alessandro J Med Genet 1984; 21: 388-391. doi:10.1136/jmg.21.5.388 [Abstract] [PDF] [Request Permissions]

	Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement. A T Tharapel, R Redheendran, C B Mankinen, and M K Kukolich J Med Genet 1984; 21: 391-395. doi:10.1136/jmg.21.5.391 [Abstract] [PDF] [Request Permissions]

	Pericentric inversion inv(3)(p11q21). F S Spedicato, A Dicomite, and R Gaudio J Med Genet 1984; 21: 396. doi:10.1136/jmg.21.5.396 [PDF] [Request Permissions]

	A case of 2-methylacetoacetyl CoA thiolase deficiency with coincidental chromosome abnormalities. R G Gray, G W Lowther, J M Littlewood, B Middleton, and M J Bennett J Med Genet 1984; 21: 397. doi:10.1136/jmg.21.5.397 [PDF] [Request Permissions]

	Freeman-Sheldon (whistling face) syndrome in a Turner mosaic. M Bajaj and L Mehta J Med Genet 1984; 21: 398. doi:10.1136/jmg.21.5.398 [PDF] [Request Permissions]

	Interstitial deletion of chromosome band 13q14 associated with squamous cell carcinoma. M Fitchett, R G Downing, D A Hopkinson, and A C Bayley J Med Genet 1984; 21: 399. doi:10.1136/jmg.21.5.399 [PDF] [Request Permissions]

	Ring chromosome 1 associated with radial ray defect. R J Gardner, R M Grindley, W E Chewings, and J E Clarkson J Med Genet 1984; 21: 400. doi:10.1136/jmg.21.5.400 [PDF] [Request Permissions]