J Med Genet -- Table of Contents (16 [4])

Subscribe here
Activate your subscription

Home > Volume 16, Number 4

Only Abstracts and PDFs available for this issue

Other Issues:
August 1979 (Volume 16, Number 4). [Index by author]

		Articles Articles Book Review Research Article

Find articles in this issue containing these words: [Search ALL Issues]

Table of Contents (PDF) | Cover (PDF) | Administration (PDF)

To see an article, click its [Full Text] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstracts' button. To see one abstract at a time, click its [Abstract] link.

Articles

Addendum
J Med Genet 1979; 16: 262. doi:10.1136/jmg.16.4.262 [PDF] [Request Permissions]

Book Review

Genetics and Ophthalmology
Barrie Jay
J Med Genet 1979; 16: 328. doi:10.1136/jmg.16.4.328 [PDF] [Request Permissions]

Research Article

Use of chromosomal translocations with in situ DNA hybridisation to confirm localisation of human 5S ribosomal RNA genes.
S J Fennell, S Malcolm, R Williamson, and M A Ferguson-Smith
J Med Genet 1979; 16: 246-253. doi:10.1136/jmg.16.4.246 [Abstract] [PDF] [Request Permissions]

X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.
R Bernstein, B Dawson, R Kohl, and T Jenkins
J Med Genet 1979; 16: 254-262. doi:10.1136/jmg.16.4.254 [Abstract] [PDF] [Request Permissions]

A high incidence of chronic inflammatory bowel disease in patients with Turner's syndrome.
W H Price
J Med Genet 1979; 16: 263-266. doi:10.1136/jmg.16.4.263 [Abstract] [PDF] [Request Permissions]

46,XY/45,X mosaicism in an amniotic fluid cell culture: suppression of abnormal cell line after subcultivation.
L Hasholt
J Med Genet 1979; 16: 267-269. doi:10.1136/jmg.16.4.267 [Abstract] [PDF] [Request Permissions]

Meiotic and radiation studies in four oligochiasmatic men.
E Thomson, J Fletcher, A C Chandley, and M Kucerová
J Med Genet 1979; 16: 270-277. doi:10.1136/jmg.16.4.270 [Abstract] [PDF] [Request Permissions]

Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter to q2102 to pter).
A Daniel, T Saville, and D B Southall
J Med Genet 1979; 16: 278-284. doi:10.1136/jmg.16.4.278 [Abstract] [PDF] [Request Permissions]

Parental origin of triploidy and D and G trisomy in spontaneous abortions.
B G Brennan and D H Carr
J Med Genet 1979; 16: 285-287. doi:10.1136/jmg.16.4.285 [Abstract] [PDF] [Request Permissions]

G gamma beta + type of hereditary persistence of fetal haemoglobin in association with Hb C.
D R Higgs, J B Clegg, W G Wood, and D J Weatherall
J Med Genet 1979; 16: 288-295. doi:10.1136/jmg.16.4.288 [Abstract] [PDF] [Request Permissions]

Globin chain synthesis in sickle beta-thalassaemic bone marrow and reticulocytes.
S Ladas, G Chalevelakis, C Lyberatos, E Vaidakis, and G Arapakis
J Med Genet 1979; 16: 296-301. doi:10.1136/jmg.16.4.296 [Abstract] [PDF] [Request Permissions]

Gaucher's disease in South Africa.
J Goldblatt and P Beighton
J Med Genet 1979; 16: 302-305. doi:10.1136/jmg.16.4.302 [Abstract] [PDF] [Request Permissions]

Sexes of affected cases in sibships containing two or more members with anencephaly or spina bifida.
W H James
J Med Genet 1979; 16: 306-308. doi:10.1136/jmg.16.4.306 [Abstract] [PDF] [Request Permissions]

Night blindness, characteristic facies, and skeletal abnormalities in two brothers.
A G Hunter, D R Thompson, M H Reed, and A G Macrodimitris
J Med Genet 1979; 16: 309-313. doi:10.1136/jmg.16.4.309 [Abstract] [PDF] [Request Permissions]

Congenital horizontal gaze palsy and kyphoscoliosis in two brothers.
E Riley and M Swift
J Med Genet 1979; 16: 314-316. doi:10.1136/jmg.16.4.314 [Abstract] [PDF] [Request Permissions]

Re-evaluation of CHANDS.
H V Toriello, J A Lindstrom, D F Waterman, and F A Baughman
J Med Genet 1979; 16: 316-317. doi:10.1136/jmg.16.4.316 [Abstract] [PDF] [Request Permissions]

Trisomy 16q arising from a maternal 15p;16q translocation.
M A Ridler and J A McKeown
J Med Genet 1979; 16: 317-320. doi:10.1136/jmg.16.4.317 [Abstract] [PDF] [Request Permissions]

Two children with partial trisomy for 7p.
A C Berry, J Honeycombe, and S J Macoun
J Med Genet 1979; 16: 320-321. doi:10.1136/jmg.16.4.320 [Abstract] [PDF] [Request Permissions]

A case of Turner's syndrome with familial balanced translocation t(1;2)(q32;q21)mat.
I Kondo, H Hamaguchi, A Matsuura, H Nakajima, A Koyama, and H Takita
J Med Genet 1979; 16: 321-323. doi:10.1136/jmg.16.4.321 [Abstract] [PDF] [Request Permissions]

De novo interstitial deletion del(1)(p21p32).
M Bene, A Duca-Marinescu, D Ioan, and C Maximilian
J Med Genet 1979; 16: 323-327. doi:10.1136/jmg.16.4.323 [Abstract] [PDF] [Request Permissions]

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

Genetics jobs

Show me all >>

	Addendum J Med Genet 1979; 16: 262. doi:10.1136/jmg.16.4.262 [PDF] [Request Permissions]

	Genetics and Ophthalmology Barrie Jay J Med Genet 1979; 16: 328. doi:10.1136/jmg.16.4.328 [PDF] [Request Permissions]

	Use of chromosomal translocations with in situ DNA hybridisation to confirm localisation of human 5S ribosomal RNA genes. S J Fennell, S Malcolm, R Williamson, and M A Ferguson-Smith J Med Genet 1979; 16: 246-253. doi:10.1136/jmg.16.4.246 [Abstract] [PDF] [Request Permissions]

	X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci. R Bernstein, B Dawson, R Kohl, and T Jenkins J Med Genet 1979; 16: 254-262. doi:10.1136/jmg.16.4.254 [Abstract] [PDF] [Request Permissions]

	A high incidence of chronic inflammatory bowel disease in patients with Turner's syndrome. W H Price J Med Genet 1979; 16: 263-266. doi:10.1136/jmg.16.4.263 [Abstract] [PDF] [Request Permissions]

	46,XY/45,X mosaicism in an amniotic fluid cell culture: suppression of abnormal cell line after subcultivation. L Hasholt J Med Genet 1979; 16: 267-269. doi:10.1136/jmg.16.4.267 [Abstract] [PDF] [Request Permissions]

	Meiotic and radiation studies in four oligochiasmatic men. E Thomson, J Fletcher, A C Chandley, and M Kucerová J Med Genet 1979; 16: 270-277. doi:10.1136/jmg.16.4.270 [Abstract] [PDF] [Request Permissions]

	Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter to q2102 to pter). A Daniel, T Saville, and D B Southall J Med Genet 1979; 16: 278-284. doi:10.1136/jmg.16.4.278 [Abstract] [PDF] [Request Permissions]

	Parental origin of triploidy and D and G trisomy in spontaneous abortions. B G Brennan and D H Carr J Med Genet 1979; 16: 285-287. doi:10.1136/jmg.16.4.285 [Abstract] [PDF] [Request Permissions]

	G gamma beta + type of hereditary persistence of fetal haemoglobin in association with Hb C. D R Higgs, J B Clegg, W G Wood, and D J Weatherall J Med Genet 1979; 16: 288-295. doi:10.1136/jmg.16.4.288 [Abstract] [PDF] [Request Permissions]

	Globin chain synthesis in sickle beta-thalassaemic bone marrow and reticulocytes. S Ladas, G Chalevelakis, C Lyberatos, E Vaidakis, and G Arapakis J Med Genet 1979; 16: 296-301. doi:10.1136/jmg.16.4.296 [Abstract] [PDF] [Request Permissions]

	Gaucher's disease in South Africa. J Goldblatt and P Beighton J Med Genet 1979; 16: 302-305. doi:10.1136/jmg.16.4.302 [Abstract] [PDF] [Request Permissions]

	Sexes of affected cases in sibships containing two or more members with anencephaly or spina bifida. W H James J Med Genet 1979; 16: 306-308. doi:10.1136/jmg.16.4.306 [Abstract] [PDF] [Request Permissions]

	Night blindness, characteristic facies, and skeletal abnormalities in two brothers. A G Hunter, D R Thompson, M H Reed, and A G Macrodimitris J Med Genet 1979; 16: 309-313. doi:10.1136/jmg.16.4.309 [Abstract] [PDF] [Request Permissions]

	Congenital horizontal gaze palsy and kyphoscoliosis in two brothers. E Riley and M Swift J Med Genet 1979; 16: 314-316. doi:10.1136/jmg.16.4.314 [Abstract] [PDF] [Request Permissions]

	Re-evaluation of CHANDS. H V Toriello, J A Lindstrom, D F Waterman, and F A Baughman J Med Genet 1979; 16: 316-317. doi:10.1136/jmg.16.4.316 [Abstract] [PDF] [Request Permissions]

	Trisomy 16q arising from a maternal 15p;16q translocation. M A Ridler and J A McKeown J Med Genet 1979; 16: 317-320. doi:10.1136/jmg.16.4.317 [Abstract] [PDF] [Request Permissions]

	Two children with partial trisomy for 7p. A C Berry, J Honeycombe, and S J Macoun J Med Genet 1979; 16: 320-321. doi:10.1136/jmg.16.4.320 [Abstract] [PDF] [Request Permissions]

	A case of Turner's syndrome with familial balanced translocation t(1;2)(q32;q21)mat. I Kondo, H Hamaguchi, A Matsuura, H Nakajima, A Koyama, and H Takita J Med Genet 1979; 16: 321-323. doi:10.1136/jmg.16.4.321 [Abstract] [PDF] [Request Permissions]

	De novo interstitial deletion del(1)(p21p32). M Bene, A Duca-Marinescu, D Ioan, and C Maximilian J Med Genet 1979; 16: 323-327. doi:10.1136/jmg.16.4.323 [Abstract] [PDF] [Request Permissions]