J Med Genet -- Table of Contents (17 [6])

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December 1980 (Volume 17, Number 6). [Index by author]

		Articles Obituaries Editorials Miscellaneous Articles Research Article

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Articles

The grandchildren of patients with pyloric stenosis
C O Carter, Kathleen Evans, and Joan Warren
J Med Genet 1980; 17: 411-415. doi:10.1136/jmg.17.6.411 [Abstract] [PDF] [Request Permissions]

Question and answer
C R Rizza
J Med Genet 1980; 17: 476. doi:10.1136/jmg.17.6.476 [PDF] [Request Permissions]

Obituaries

Arnold Sorsby: Editor, Journal of Medical Genetics, 1962-1969
J A Fraser Roberts and Rita Carne
J Med Genet 1980; 17: 410. doi:10.1136/jmg.17.6.410 [PDF] [Request Permissions]

Editorials

Short reports
M Bobrow
J Med Genet 1980; 17: 409. doi:10.1136/jmg.17.6.409 [PDF] [Request Permissions]

Miscellaneous

Corrections
J Med Genet 1980; 17: 490. doi:10.1136/jmg.17.6.490 [PDF] [Request Permissions]

Research Article

Genetic and clinical patterns of heritable cerebellar ataxias in adults. I. Genetic analyses.
K Kondo and I Sobue
J Med Genet 1980; 17: 416-423. doi:10.1136/jmg.17.6.416 [Abstract] [PDF] [Request Permissions]

Autosomal recessive peripheral sensory neuropathy in 3 non-Ashkenazi Jewish families.
I Tamari, R M Goodman, I Sarova, M Hertz, R Adar, and T Zvibach
J Med Genet 1980; 17: 424-429. doi:10.1136/jmg.17.6.424 [Abstract] [PDF] [Request Permissions]

The Cohen syndrome: clinical and endocrinological studies of two new cases.
P Balestrazzi, L Corrini, G Villani, M P Bolla, F Casa, and S Bernasconi
J Med Genet 1980; 17: 430-432. doi:10.1136/jmg.17.6.430 [Abstract] [PDF] [Request Permissions]

Down syndrome and maternal age in South Glamorgan.
I D Young, E M Williams, and R G Newcombe
J Med Genet 1980; 17: 433-436. doi:10.1136/jmg.17.6.433 [Abstract] [PDF] [Request Permissions]

X;Y translocation in an adolescent mentally normal phenotypic male with features of hypogonadism.
R Bernstein, M R Pinto, M Almeida, S M Solarsh, J Meck, and T Jenkins
J Med Genet 1980; 17: 437-443. doi:10.1136/jmg.17.6.437 [Abstract] [PDF] [Request Permissions]

A familial polymorphic variant of chromosome 5.
M Seabright, N M Gregson, and M Johnson
J Med Genet 1980; 17: 444-446. doi:10.1136/jmg.17.6.444 [Abstract] [PDF] [Request Permissions]

Location of the gene for 21-hydroxylase deficiency.
V Pucholt, J S Fitzsimmons, K Gelsthorpe, M A Reynolds, and R D Milner
J Med Genet 1980; 17: 447-452. doi:10.1136/jmg.17.6.447 [Abstract] [PDF] [Request Permissions]

Selective IgA deficiency with 18q+ and 18q-- karyotypic anomalies.
R M Lewkonia, C C Lin, and R H Haslam
J Med Genet 1980; 17: 453-456. doi:10.1136/jmg.17.6.453 [Abstract] [PDF] [Request Permissions]

Cytogenetic and clinical studies in gonadal dysgenesis with 46,X,Xt(qter leads to p221::p223 leads to qter) karyotype: review and phenotype/karyotype correlations.
M Ferraro, A De Capoa, C Mostacci, F Pelliccia, P Zulli, M A Baldini, and Q Di Nisio
J Med Genet 1980; 17: 457-463. doi:10.1136/jmg.17.6.457 [Abstract] [PDF] [Request Permissions]

A family segregating for E1j and E1k at cholinesterase locus 1.
R T Evans, J Iqbal, A A Dietz, T Lubrano, and H M Rubinstein
J Med Genet 1980; 17: 464-467. doi:10.1136/jmg.17.6.464 [Abstract] [PDF] [Request Permissions]

Sequential staining of euchromatic and heterochromatic regions of the human Y chromosome.
V J Goyanes
J Med Genet 1980; 17: 468-471. doi:10.1136/jmg.17.6.468 [Abstract] [PDF] [Request Permissions]

A cryopreservative procedure for storing cultivated and uncultivated amniotic fluid cells in liquid nitrogen.
S Pentz and H Hörler
J Med Genet 1980; 17: 472-475. doi:10.1136/jmg.17.6.472 [Abstract] [PDF] [Request Permissions]

Agenesis of the lung associated with a chromosome abnormality (46,XX,2p+).
B Say, N J Carpenter, G Giacoia, and S Jegathesan
J Med Genet 1980; 17: 477-478. doi:10.1136/jmg.17.6.477 [Abstract] [PDF] [Request Permissions]

A probable case of the homozygous condition of the aniridia gene.
S V Hodgson and K E Saunders
J Med Genet 1980; 17: 478-480. doi:10.1136/jmg.17.6.478 [Abstract] [PDF] [Request Permissions]

Craniosynostosis and syndactyly: expanding the 11q-- chromosomal deletion phenotype.
B M Lippe, R S Sparkes, B Fass, and L Neidengard
J Med Genet 1980; 17: 480-483. doi:10.1136/jmg.17.6.480 [Abstract] [PDF] [Request Permissions]

Interstitial deletion in the long arms of chromosome 1: 46,XY,del(1)(pter leads to q22::q25 leads to qter).
C E de Pablo, J M García Sagredo, M T Ferro, P Ferrando, and C San Román
J Med Genet 1980; 17: 483-486. doi:10.1136/jmg.17.6.483 [Abstract] [PDF] [Request Permissions]

Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15).
C Stoll, J Levy, and M P Roth
J Med Genet 1980; 17: 486-487. doi:10.1136/jmg.17.6.486 [Abstract] [PDF] [Request Permissions]

Neurological and neuropathological findings in ring chromosome 4.
R S Young and E L Zalneraitis
J Med Genet 1980; 17: 487-490. doi:10.1136/jmg.17.6.487 [Abstract] [PDF] [Request Permissions]

Higher risk to D;G translocation carriers fo tdic(13;21) as compared to tdic(14;21)
A Daniel, K Williams, and P R Lam-Po-Tang
J Med Genet 1980; 17: 491. doi:10.1136/jmg.17.6.491 [PDF] [Request Permissions]

Cause of neural tube defects.
M J Seller
J Med Genet 1980; 17: 491-492. doi:10.1136/jmg.17.6.491-a [PDF] [Request Permissions]

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	The grandchildren of patients with pyloric stenosis C O Carter, Kathleen Evans, and Joan Warren J Med Genet 1980; 17: 411-415. doi:10.1136/jmg.17.6.411 [Abstract] [PDF] [Request Permissions]

	Question and answer C R Rizza J Med Genet 1980; 17: 476. doi:10.1136/jmg.17.6.476 [PDF] [Request Permissions]

	Arnold Sorsby: Editor, Journal of Medical Genetics, 1962-1969 J A Fraser Roberts and Rita Carne J Med Genet 1980; 17: 410. doi:10.1136/jmg.17.6.410 [PDF] [Request Permissions]

	Short reports M Bobrow J Med Genet 1980; 17: 409. doi:10.1136/jmg.17.6.409 [PDF] [Request Permissions]

	Corrections J Med Genet 1980; 17: 490. doi:10.1136/jmg.17.6.490 [PDF] [Request Permissions]

	Genetic and clinical patterns of heritable cerebellar ataxias in adults. I. Genetic analyses. K Kondo and I Sobue J Med Genet 1980; 17: 416-423. doi:10.1136/jmg.17.6.416 [Abstract] [PDF] [Request Permissions]

	Autosomal recessive peripheral sensory neuropathy in 3 non-Ashkenazi Jewish families. I Tamari, R M Goodman, I Sarova, M Hertz, R Adar, and T Zvibach J Med Genet 1980; 17: 424-429. doi:10.1136/jmg.17.6.424 [Abstract] [PDF] [Request Permissions]

	The Cohen syndrome: clinical and endocrinological studies of two new cases. P Balestrazzi, L Corrini, G Villani, M P Bolla, F Casa, and S Bernasconi J Med Genet 1980; 17: 430-432. doi:10.1136/jmg.17.6.430 [Abstract] [PDF] [Request Permissions]

	Down syndrome and maternal age in South Glamorgan. I D Young, E M Williams, and R G Newcombe J Med Genet 1980; 17: 433-436. doi:10.1136/jmg.17.6.433 [Abstract] [PDF] [Request Permissions]

	X;Y translocation in an adolescent mentally normal phenotypic male with features of hypogonadism. R Bernstein, M R Pinto, M Almeida, S M Solarsh, J Meck, and T Jenkins J Med Genet 1980; 17: 437-443. doi:10.1136/jmg.17.6.437 [Abstract] [PDF] [Request Permissions]

	A familial polymorphic variant of chromosome 5. M Seabright, N M Gregson, and M Johnson J Med Genet 1980; 17: 444-446. doi:10.1136/jmg.17.6.444 [Abstract] [PDF] [Request Permissions]

	Location of the gene for 21-hydroxylase deficiency. V Pucholt, J S Fitzsimmons, K Gelsthorpe, M A Reynolds, and R D Milner J Med Genet 1980; 17: 447-452. doi:10.1136/jmg.17.6.447 [Abstract] [PDF] [Request Permissions]

	Selective IgA deficiency with 18q+ and 18q-- karyotypic anomalies. R M Lewkonia, C C Lin, and R H Haslam J Med Genet 1980; 17: 453-456. doi:10.1136/jmg.17.6.453 [Abstract] [PDF] [Request Permissions]

	Cytogenetic and clinical studies in gonadal dysgenesis with 46,X,Xt(qter leads to p221::p223 leads to qter) karyotype: review and phenotype/karyotype correlations. M Ferraro, A De Capoa, C Mostacci, F Pelliccia, P Zulli, M A Baldini, and Q Di Nisio J Med Genet 1980; 17: 457-463. doi:10.1136/jmg.17.6.457 [Abstract] [PDF] [Request Permissions]

	A family segregating for E1j and E1k at cholinesterase locus 1. R T Evans, J Iqbal, A A Dietz, T Lubrano, and H M Rubinstein J Med Genet 1980; 17: 464-467. doi:10.1136/jmg.17.6.464 [Abstract] [PDF] [Request Permissions]

	Sequential staining of euchromatic and heterochromatic regions of the human Y chromosome. V J Goyanes J Med Genet 1980; 17: 468-471. doi:10.1136/jmg.17.6.468 [Abstract] [PDF] [Request Permissions]

	A cryopreservative procedure for storing cultivated and uncultivated amniotic fluid cells in liquid nitrogen. S Pentz and H Hörler J Med Genet 1980; 17: 472-475. doi:10.1136/jmg.17.6.472 [Abstract] [PDF] [Request Permissions]

	Agenesis of the lung associated with a chromosome abnormality (46,XX,2p+). B Say, N J Carpenter, G Giacoia, and S Jegathesan J Med Genet 1980; 17: 477-478. doi:10.1136/jmg.17.6.477 [Abstract] [PDF] [Request Permissions]

	A probable case of the homozygous condition of the aniridia gene. S V Hodgson and K E Saunders J Med Genet 1980; 17: 478-480. doi:10.1136/jmg.17.6.478 [Abstract] [PDF] [Request Permissions]

	Craniosynostosis and syndactyly: expanding the 11q-- chromosomal deletion phenotype. B M Lippe, R S Sparkes, B Fass, and L Neidengard J Med Genet 1980; 17: 480-483. doi:10.1136/jmg.17.6.480 [Abstract] [PDF] [Request Permissions]

	Interstitial deletion in the long arms of chromosome 1: 46,XY,del(1)(pter leads to q22::q25 leads to qter). C E de Pablo, J M García Sagredo, M T Ferro, P Ferrando, and C San Román J Med Genet 1980; 17: 483-486. doi:10.1136/jmg.17.6.483 [Abstract] [PDF] [Request Permissions]

	Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15). C Stoll, J Levy, and M P Roth J Med Genet 1980; 17: 486-487. doi:10.1136/jmg.17.6.486 [Abstract] [PDF] [Request Permissions]

	Neurological and neuropathological findings in ring chromosome 4. R S Young and E L Zalneraitis J Med Genet 1980; 17: 487-490. doi:10.1136/jmg.17.6.487 [Abstract] [PDF] [Request Permissions]

	Higher risk to D;G translocation carriers fo tdic(13;21) as compared to tdic(14;21) A Daniel, K Williams, and P R Lam-Po-Tang J Med Genet 1980; 17: 491. doi:10.1136/jmg.17.6.491 [PDF] [Request Permissions]

	Cause of neural tube defects. M J Seller J Med Genet 1980; 17: 491-492. doi:10.1136/jmg.17.6.491-a [PDF] [Request Permissions]