J Med Genet -- Table of Contents (18 [5])

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October 1981 (Volume 18, Number 5). [Index by author]

		Correspondence Book Reviews Case Reports Research Article

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Correspondence

Correspondence
A E Harding and P K Thomas
J Med Genet 1981; 18: 399. doi:10.1136/jmg.18.5.399-a [PDF] [Request Permissions]

Correspondence: Gonadal dysgenesis with 46,X,Xt(qter $->$ p221:: p223 $->$ qter) karyotype
Arabella Smith
J Med Genet 1981; 18: 400. doi:10.1136/jmg.18.5.400 [PDF] [Request Permissions]

Correspondence
M Ferraro
J Med Genet 1981; 18: 400. doi:10.1136/jmg.18.5.400-a [PDF] [Request Permissions]

Book Reviews

The Principles of Human Biochemical Genetics
D J H Brock
J Med Genet 1981; 18: 401. doi:10.1136/jmg.18.5.401 [PDF] [Request Permissions]

Practical Genetic Counselling
Rodney Harris
J Med Genet 1981; 18: 401-402. doi:10.1136/jmg.18.5.401-a [PDF] [Request Permissions]

A Handbook of Clinical Genetics
Mary Vowles
J Med Genet 1981; 18: 402. doi:10.1136/jmg.18.5.402 [PDF] [Request Permissions]

Genetic Metabolic Diseases. Early Diagnosis and Prenatal Analysis
A D Patrick
J Med Genet 1981; 18: 402. doi:10.1136/jmg.18.5.402-a [PDF] [Request Permissions]

Inborn Errors of Metabolism
P F Benson
J Med Genet 1981; 18: 403. doi:10.1136/jmg.18.5.403 [PDF] [Request Permissions]

Genetics of Gastrointestinal Disease
R B McConnell
J Med Genet 1981; 18: 403-404. doi:10.1136/jmg.18.5.403-a [PDF] [Request Permissions]

Prenatal Diagnosis
C O Carter
J Med Genet 1981; 18: 404. doi:10.1136/jmg.18.5.404 [PDF] [Request Permissions]

Case Reports

18p— syndrome with a single central maxillary incisor
Lawrence M Dolan, Kathryn Willson, and William G Wilson
J Med Genet 1981; 18: 396-398. doi:10.1136/jmg.18.5.396 [Abstract] [PDF] [Request Permissions]

Research Article

Human acetylator polymorphism: estimate of allele frequency in Libya and details of global distribution.
A K Karim, M S Elfellah, and D A Evans
J Med Genet 1981; 18: 325-330. doi:10.1136/jmg.18.5.325 [Abstract] [PDF] [Request Permissions]

Adenosine deaminase polymorphism. Associations at clinical level suggest a role in cell functions and immune reactions.
E Bottini, E Carapella, L Cataldi, M Nicotra, P Lucarelli, N Lucarini, R Pascone, and F Gloria-Bottini
J Med Genet 1981; 18: 331-334. doi:10.1136/jmg.18.5.331 [Abstract] [PDF] [Request Permissions]

Hereditary ectodermal dysplasia, olivopontocerebellar degeneration, short stature, and hypogonadism.
A R Rushton and M Genel
J Med Genet 1981; 18: 335-339. doi:10.1136/jmg.18.5.335 [Abstract] [PDF] [Request Permissions]

Risk counselling in autosomal dominant disorders with undetermined penetrance.
R M Pauli and A G Motulsky
J Med Genet 1981; 18: 340-343. doi:10.1136/jmg.18.5.340 [Abstract] [PDF] [Request Permissions]

Dermatoglyphs in congenital heart disease.
T J David
J Med Genet 1981; 18: 344-349. doi:10.1136/jmg.18.5.344 [Abstract] [PDF] [Request Permissions]

Genetic counselling for handicapped school leavers.
M Vowles
J Med Genet 1981; 18: 350-358. doi:10.1136/jmg.18.5.350 [Abstract] [PDF] [Request Permissions]

Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy.
P Donnai, D Donnai, R Harris, R Stephens, E Young, and S Campbell
J Med Genet 1981; 18: 359-361. doi:10.1136/jmg.18.5.359 [Abstract] [PDF] [Request Permissions]

Meiotic behaviour of two human reciprocal translocations.
J Egozcue, S Marina, and C Templado
J Med Genet 1981; 18: 362-365. doi:10.1136/jmg.18.5.362 [Abstract] [PDF] [Request Permissions]

The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation.
R Proops and T Webb
J Med Genet 1981; 18: 366-373. doi:10.1136/jmg.18.5.366 [Abstract] [PDF] [Request Permissions]

5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation.
N Tommerup, H Poulsen, and K Brøndum-Nielsen
J Med Genet 1981; 18: 374-376. doi:10.1136/jmg.18.5.374 [Abstract] [PDF] [Request Permissions]

Complete trisomy 9 in two liveborn infants.
S Mantagos, J W McReynolds, M R Seashore, and W R Breg
J Med Genet 1981; 18: 377-382. doi:10.1136/jmg.18.5.377 [Abstract] [PDF] [Request Permissions]

Fetal phenotype in a case of partial trisomy 21 and partial monosomy 22 detected prenatally.
A M Migliorini, R Coco, T C De Negrotti, J M Sanchez, and G Castineyra
J Med Genet 1981; 18: 383-385. doi:10.1136/jmg.18.5.383 [Abstract] [PDF] [Request Permissions]

Diplospermy II indicated as the origin of a liveborn human triploid (69,XXX).
B M Page, E B Robson, P J Cook, R Sanger, and J L Watt
J Med Genet 1981; 18: 386-389. doi:10.1136/jmg.18.5.386 [Abstract] [PDF] [Request Permissions]

Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9.
M Frydman, F Shabtal, I Halbrecht, and E Elian
J Med Genet 1981; 18: 390-392. doi:10.1136/jmg.18.5.390 [Abstract] [PDF] [Request Permissions]

Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome.
G S Pai, G H Thomas, and P J Benke
J Med Genet 1981; 18: 392-394. doi:10.1136/jmg.18.5.392 [Abstract] [PDF] [Request Permissions]

Ectrodactyly, cleft lip and palate in two half sibs.
M B Lewis and H M Pashayan
J Med Genet 1981; 18: 394-396. doi:10.1136/jmg.18.5.394 [Abstract] [PDF] [Request Permissions]

Hereditary motor and sensory neuropathy.
T D Bird
J Med Genet 1981; 18: 399. doi:10.1136/jmg.18.5.399 [PDF] [Request Permissions]

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	Correspondence A E Harding and P K Thomas J Med Genet 1981; 18: 399. doi:10.1136/jmg.18.5.399-a [PDF] [Request Permissions]

	Correspondence: Gonadal dysgenesis with 46,X,Xt(qter $->$ p221:: p223 $->$ qter) karyotype Arabella Smith J Med Genet 1981; 18: 400. doi:10.1136/jmg.18.5.400 [PDF] [Request Permissions]

	Correspondence M Ferraro J Med Genet 1981; 18: 400. doi:10.1136/jmg.18.5.400-a [PDF] [Request Permissions]

	The Principles of Human Biochemical Genetics D J H Brock J Med Genet 1981; 18: 401. doi:10.1136/jmg.18.5.401 [PDF] [Request Permissions]

	Practical Genetic Counselling Rodney Harris J Med Genet 1981; 18: 401-402. doi:10.1136/jmg.18.5.401-a [PDF] [Request Permissions]

	A Handbook of Clinical Genetics Mary Vowles J Med Genet 1981; 18: 402. doi:10.1136/jmg.18.5.402 [PDF] [Request Permissions]

	Genetic Metabolic Diseases. Early Diagnosis and Prenatal Analysis A D Patrick J Med Genet 1981; 18: 402. doi:10.1136/jmg.18.5.402-a [PDF] [Request Permissions]

	Inborn Errors of Metabolism P F Benson J Med Genet 1981; 18: 403. doi:10.1136/jmg.18.5.403 [PDF] [Request Permissions]

	Genetics of Gastrointestinal Disease R B McConnell J Med Genet 1981; 18: 403-404. doi:10.1136/jmg.18.5.403-a [PDF] [Request Permissions]

	Prenatal Diagnosis C O Carter J Med Genet 1981; 18: 404. doi:10.1136/jmg.18.5.404 [PDF] [Request Permissions]

	18p— syndrome with a single central maxillary incisor Lawrence M Dolan, Kathryn Willson, and William G Wilson J Med Genet 1981; 18: 396-398. doi:10.1136/jmg.18.5.396 [Abstract] [PDF] [Request Permissions]

	Human acetylator polymorphism: estimate of allele frequency in Libya and details of global distribution. A K Karim, M S Elfellah, and D A Evans J Med Genet 1981; 18: 325-330. doi:10.1136/jmg.18.5.325 [Abstract] [PDF] [Request Permissions]

	Adenosine deaminase polymorphism. Associations at clinical level suggest a role in cell functions and immune reactions. E Bottini, E Carapella, L Cataldi, M Nicotra, P Lucarelli, N Lucarini, R Pascone, and F Gloria-Bottini J Med Genet 1981; 18: 331-334. doi:10.1136/jmg.18.5.331 [Abstract] [PDF] [Request Permissions]

	Hereditary ectodermal dysplasia, olivopontocerebellar degeneration, short stature, and hypogonadism. A R Rushton and M Genel J Med Genet 1981; 18: 335-339. doi:10.1136/jmg.18.5.335 [Abstract] [PDF] [Request Permissions]

	Risk counselling in autosomal dominant disorders with undetermined penetrance. R M Pauli and A G Motulsky J Med Genet 1981; 18: 340-343. doi:10.1136/jmg.18.5.340 [Abstract] [PDF] [Request Permissions]

	Dermatoglyphs in congenital heart disease. T J David J Med Genet 1981; 18: 344-349. doi:10.1136/jmg.18.5.344 [Abstract] [PDF] [Request Permissions]

	Genetic counselling for handicapped school leavers. M Vowles J Med Genet 1981; 18: 350-358. doi:10.1136/jmg.18.5.350 [Abstract] [PDF] [Request Permissions]

	Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy. P Donnai, D Donnai, R Harris, R Stephens, E Young, and S Campbell J Med Genet 1981; 18: 359-361. doi:10.1136/jmg.18.5.359 [Abstract] [PDF] [Request Permissions]

	Meiotic behaviour of two human reciprocal translocations. J Egozcue, S Marina, and C Templado J Med Genet 1981; 18: 362-365. doi:10.1136/jmg.18.5.362 [Abstract] [PDF] [Request Permissions]

	The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation. R Proops and T Webb J Med Genet 1981; 18: 366-373. doi:10.1136/jmg.18.5.366 [Abstract] [PDF] [Request Permissions]

	5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation. N Tommerup, H Poulsen, and K Brøndum-Nielsen J Med Genet 1981; 18: 374-376. doi:10.1136/jmg.18.5.374 [Abstract] [PDF] [Request Permissions]

	Complete trisomy 9 in two liveborn infants. S Mantagos, J W McReynolds, M R Seashore, and W R Breg J Med Genet 1981; 18: 377-382. doi:10.1136/jmg.18.5.377 [Abstract] [PDF] [Request Permissions]

	Fetal phenotype in a case of partial trisomy 21 and partial monosomy 22 detected prenatally. A M Migliorini, R Coco, T C De Negrotti, J M Sanchez, and G Castineyra J Med Genet 1981; 18: 383-385. doi:10.1136/jmg.18.5.383 [Abstract] [PDF] [Request Permissions]

	Diplospermy II indicated as the origin of a liveborn human triploid (69,XXX). B M Page, E B Robson, P J Cook, R Sanger, and J L Watt J Med Genet 1981; 18: 386-389. doi:10.1136/jmg.18.5.386 [Abstract] [PDF] [Request Permissions]

	Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9. M Frydman, F Shabtal, I Halbrecht, and E Elian J Med Genet 1981; 18: 390-392. doi:10.1136/jmg.18.5.390 [Abstract] [PDF] [Request Permissions]

	Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome. G S Pai, G H Thomas, and P J Benke J Med Genet 1981; 18: 392-394. doi:10.1136/jmg.18.5.392 [Abstract] [PDF] [Request Permissions]

	Ectrodactyly, cleft lip and palate in two half sibs. M B Lewis and H M Pashayan J Med Genet 1981; 18: 394-396. doi:10.1136/jmg.18.5.394 [Abstract] [PDF] [Request Permissions]

	Hereditary motor and sensory neuropathy. T D Bird J Med Genet 1981; 18: 399. doi:10.1136/jmg.18.5.399 [PDF] [Request Permissions]