J Med Genet -- Table of Contents (22 [2])

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April 1985 (Volume 22, Number 2). [Index by author]

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Articles

Editorial
C A Clarke
J Med Genet 1985; 22: 81-84. doi:10.1136/jmg.22.2.81 [PDF] [Request Permissions]

Abstracts of the meeting of the Clinical Genetics Society held on 8, 9, and 10 November 1984 at the Royal Free Hospital, London
J Med Genet 1985; 22: 137-139. doi:10.1136/jmg.22.2.137 [PDF] [Request Permissions]

Book Reviews

Recombinant DNA and Medical Genetics
Peter S Harper
J Med Genet 1985; 22: 158. doi:10.1136/jmg.22.2.158 [PDF] [Request Permissions]

Advances in Human Genetics
Marcus Pembrey
J Med Genet 1985; 22: 158. doi:10.1136/jmg.22.2.158-a [PDF] [Request Permissions]

Perspectives in Mutation Epidemiology
James M Parry
J Med Genet 1985; 22: 158-159. doi:10.1136/jmg.22.2.158-b [PDF] [Request Permissions]

Alkaptonuria
Peter S Harper
J Med Genet 1985; 22: 159. doi:10.1136/jmg.22.2.159 [PDF] [Request Permissions]

Research Article

Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence.
E Tuckerman, T Webb, and S E Bundey
J Med Genet 1985; 22: 85-91. doi:10.1136/jmg.22.2.85 [Abstract] [PDF] [Request Permissions]

First trimester fetal diagnosis of genetic disorders: clinical evaluation of 250 cases.
B Brambati, G Simoni, C Danesino, A Oldrini, E Ferrazzi, L Romitti, G Terzoli, F Rossella, M Ferrari, and M Fraccaro
J Med Genet 1985; 22: 92-99. doi:10.1136/jmg.22.2.92 [Abstract] [PDF] [Request Permissions]

Cell surface abnormality in clones of skin fibroblasts from a carrier of Duchenne muscular dystrophy.
J Hillier, G E Jones, H E Statham, J A Witkowski, and V Dubowitz
J Med Genet 1985; 22: 100-103. doi:10.1136/jmg.22.2.100 [Abstract] [PDF] [Request Permissions]

A pedigree study of perinatally lethal renal disease.
A Bankier, M de Campo, R Newell, J G Rogers, and D M Danks
J Med Genet 1985; 22: 104-111. doi:10.1136/jmg.22.2.104 [Abstract] [PDF] [Request Permissions]

Necropsy findings in neonatal asphyxiating thoracic dystrophy.
S B Turkel, E J Diehl, and J A Richmond
J Med Genet 1985; 22: 112-118. doi:10.1136/jmg.22.2.112 [Abstract] [PDF] [Request Permissions]

An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa.
H E Hughes, P J McAlpine, D W Cox, and S Philipps
J Med Genet 1985; 22: 119-125. doi:10.1136/jmg.22.2.119 [Abstract] [PDF] [Request Permissions]

Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease.
S Ohdo, H Madokoro, T Sonoda, T Nishiguchi, K Kawaguchi, and K Hayakawa
J Med Genet 1985; 22: 126-127. doi:10.1136/jmg.22.2.126 [Abstract] [PDF] [Request Permissions]

The frequency of lactase phenotypes in Aymara children.
E Balanza and G Taboada
J Med Genet 1985; 22: 128-130. doi:10.1136/jmg.22.2.128 [Abstract] [PDF] [Request Permissions]

The clinical features of the Cohen syndrome: further case reports.
C North, M A Patton, M Baraitser, and R M Winter
J Med Genet 1985; 22: 131-134. doi:10.1136/jmg.22.2.131 [Abstract] [PDF] [Request Permissions]

Dermatoglyphs in children with mitral valve prolapse.
J S Tay, W C Yip, H K Yap, B W Lee, H B Wong, and S O Chay
J Med Genet 1985; 22: 135-136. doi:10.1136/jmg.22.2.135 [Abstract] [PDF] [Request Permissions]

De novo paracentric inversion in an X chromosome.
H M Herr, S J Horton, and C I Scott, Jr
J Med Genet 1985; 22: 140-142. doi:10.1136/jmg.22.2.140 [Abstract] [PDF] [Request Permissions]

Monosomy 13q32.3----qter: report of two cases.
H Rivera, S A González-Flores, F Rivas, J Sánchez-Corona, M Moller, and J M Cantú
J Med Genet 1985; 22: 142-145. doi:10.1136/jmg.22.2.142 [Abstract] [PDF] [Request Permissions]

Congenital diaphragmatic hernia in half sibs.
A H Lipson and G Williams
J Med Genet 1985; 22: 145-147. doi:10.1136/jmg.22.2.145 [Abstract] [PDF] [Request Permissions]

A case of suspected teratogenic holoprosencephaly.
M Stabile, A Bianco, S Iannuzzi, M C Buonocore, and V Ventruto
J Med Genet 1985; 22: 147-149. doi:10.1136/jmg.22.2.147 [Abstract] [PDF] [Request Permissions]

Tracheo-oesophageal anomalies in the Goldenhar anomalad.
A Mendelberg, I Ariel, P Mogle, and I Arad
J Med Genet 1985; 22: 149-150. doi:10.1136/jmg.22.2.149 [Abstract] [PDF] [Request Permissions]

Severe pseudoachondroplasia with parental consanguinity.
I D Young and J R Moore
J Med Genet 1985; 22: 150-153. doi:10.1136/jmg.22.2.150 [Abstract] [PDF] [Request Permissions]

A case of malignant spinal cord ependymoma in association with a duplication of part of the long arm of chromosome 12.
B G Neville, A C Berry, and Y Stoddart
J Med Genet 1985; 22: 154. doi:10.1136/jmg.22.2.154 [PDF] [Request Permissions]

Interstitial deletion of chromosome 2.
S Markovic, M Krstic, V Sulovic, Z Radojkovic, and S Adzic
J Med Genet 1985; 22: 154-155. doi:10.1136/jmg.22.2.154-a [PDF] [Request Permissions]

Familial occurrence of a pseudodicentric chromosome 21.
I Hancke and K Miller
J Med Genet 1985; 22: 155-156. doi:10.1136/jmg.22.2.155 [PDF] [Request Permissions]

Extra euchromatic band in the qh region of chromosome 9.
Z Docherty and M A Hultén
J Med Genet 1985; 22: 156-157. doi:10.1136/jmg.22.2.156 [PDF] [Request Permissions]

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	Editorial C A Clarke J Med Genet 1985; 22: 81-84. doi:10.1136/jmg.22.2.81 [PDF] [Request Permissions]

	Abstracts of the meeting of the Clinical Genetics Society held on 8, 9, and 10 November 1984 at the Royal Free Hospital, London J Med Genet 1985; 22: 137-139. doi:10.1136/jmg.22.2.137 [PDF] [Request Permissions]

	Recombinant DNA and Medical Genetics Peter S Harper J Med Genet 1985; 22: 158. doi:10.1136/jmg.22.2.158 [PDF] [Request Permissions]

	Advances in Human Genetics Marcus Pembrey J Med Genet 1985; 22: 158. doi:10.1136/jmg.22.2.158-a [PDF] [Request Permissions]

	Perspectives in Mutation Epidemiology James M Parry J Med Genet 1985; 22: 158-159. doi:10.1136/jmg.22.2.158-b [PDF] [Request Permissions]

	Alkaptonuria Peter S Harper J Med Genet 1985; 22: 159. doi:10.1136/jmg.22.2.159 [PDF] [Request Permissions]

	Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence. E Tuckerman, T Webb, and S E Bundey J Med Genet 1985; 22: 85-91. doi:10.1136/jmg.22.2.85 [Abstract] [PDF] [Request Permissions]

	First trimester fetal diagnosis of genetic disorders: clinical evaluation of 250 cases. B Brambati, G Simoni, C Danesino, A Oldrini, E Ferrazzi, L Romitti, G Terzoli, F Rossella, M Ferrari, and M Fraccaro J Med Genet 1985; 22: 92-99. doi:10.1136/jmg.22.2.92 [Abstract] [PDF] [Request Permissions]

	Cell surface abnormality in clones of skin fibroblasts from a carrier of Duchenne muscular dystrophy. J Hillier, G E Jones, H E Statham, J A Witkowski, and V Dubowitz J Med Genet 1985; 22: 100-103. doi:10.1136/jmg.22.2.100 [Abstract] [PDF] [Request Permissions]

	A pedigree study of perinatally lethal renal disease. A Bankier, M de Campo, R Newell, J G Rogers, and D M Danks J Med Genet 1985; 22: 104-111. doi:10.1136/jmg.22.2.104 [Abstract] [PDF] [Request Permissions]

	Necropsy findings in neonatal asphyxiating thoracic dystrophy. S B Turkel, E J Diehl, and J A Richmond J Med Genet 1985; 22: 112-118. doi:10.1136/jmg.22.2.112 [Abstract] [PDF] [Request Permissions]

	An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa. H E Hughes, P J McAlpine, D W Cox, and S Philipps J Med Genet 1985; 22: 119-125. doi:10.1136/jmg.22.2.119 [Abstract] [PDF] [Request Permissions]

	Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease. S Ohdo, H Madokoro, T Sonoda, T Nishiguchi, K Kawaguchi, and K Hayakawa J Med Genet 1985; 22: 126-127. doi:10.1136/jmg.22.2.126 [Abstract] [PDF] [Request Permissions]

	The frequency of lactase phenotypes in Aymara children. E Balanza and G Taboada J Med Genet 1985; 22: 128-130. doi:10.1136/jmg.22.2.128 [Abstract] [PDF] [Request Permissions]

	The clinical features of the Cohen syndrome: further case reports. C North, M A Patton, M Baraitser, and R M Winter J Med Genet 1985; 22: 131-134. doi:10.1136/jmg.22.2.131 [Abstract] [PDF] [Request Permissions]

	Dermatoglyphs in children with mitral valve prolapse. J S Tay, W C Yip, H K Yap, B W Lee, H B Wong, and S O Chay J Med Genet 1985; 22: 135-136. doi:10.1136/jmg.22.2.135 [Abstract] [PDF] [Request Permissions]

	De novo paracentric inversion in an X chromosome. H M Herr, S J Horton, and C I Scott, Jr J Med Genet 1985; 22: 140-142. doi:10.1136/jmg.22.2.140 [Abstract] [PDF] [Request Permissions]

	Monosomy 13q32.3----qter: report of two cases. H Rivera, S A González-Flores, F Rivas, J Sánchez-Corona, M Moller, and J M Cantú J Med Genet 1985; 22: 142-145. doi:10.1136/jmg.22.2.142 [Abstract] [PDF] [Request Permissions]

	Congenital diaphragmatic hernia in half sibs. A H Lipson and G Williams J Med Genet 1985; 22: 145-147. doi:10.1136/jmg.22.2.145 [Abstract] [PDF] [Request Permissions]

	A case of suspected teratogenic holoprosencephaly. M Stabile, A Bianco, S Iannuzzi, M C Buonocore, and V Ventruto J Med Genet 1985; 22: 147-149. doi:10.1136/jmg.22.2.147 [Abstract] [PDF] [Request Permissions]

	Tracheo-oesophageal anomalies in the Goldenhar anomalad. A Mendelberg, I Ariel, P Mogle, and I Arad J Med Genet 1985; 22: 149-150. doi:10.1136/jmg.22.2.149 [Abstract] [PDF] [Request Permissions]

	Severe pseudoachondroplasia with parental consanguinity. I D Young and J R Moore J Med Genet 1985; 22: 150-153. doi:10.1136/jmg.22.2.150 [Abstract] [PDF] [Request Permissions]

	A case of malignant spinal cord ependymoma in association with a duplication of part of the long arm of chromosome 12. B G Neville, A C Berry, and Y Stoddart J Med Genet 1985; 22: 154. doi:10.1136/jmg.22.2.154 [PDF] [Request Permissions]

	Interstitial deletion of chromosome 2. S Markovic, M Krstic, V Sulovic, Z Radojkovic, and S Adzic J Med Genet 1985; 22: 154-155. doi:10.1136/jmg.22.2.154-a [PDF] [Request Permissions]

	Familial occurrence of a pseudodicentric chromosome 21. I Hancke and K Miller J Med Genet 1985; 22: 155-156. doi:10.1136/jmg.22.2.155 [PDF] [Request Permissions]

	Extra euchromatic band in the qh region of chromosome 9. Z Docherty and M A Hultén J Med Genet 1985; 22: 156-157. doi:10.1136/jmg.22.2.156 [PDF] [Request Permissions]