J Med Genet -- Table of Contents (26 [3])

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March 1989 (Volume 26, Number 3). [Index by author]

		Correspondence Abstracts of the Meeting of the Clinical Genetics Society Held on 22 and 23 September 1988 at the University of Aberdeen Research Article

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Correspondence

Correspondence
C G Keith
J Med Genet 1989; 26: 216. doi:10.1136/jmg.26.3.216-a [PDF] [Request Permissions]

Abstracts of the Meeting of the Clinical Genetics Society Held on 22 and 23 September 1988 at the University of Aberdeen

Abstracts of the meeting of the Clinical Genetics Society held on 22 and 23 September 1988 at the University of Aberdeen
J Med Genet 1989; 26: 207-215. doi:10.1136/jmg.26.3.207 [PDF] [Request Permissions]

Research Article

Deleted Yq in the sterile son of a man with a satellited Y chromosome (Yqs).
A C Chandley, J R Gosden, T B Hargreave, G Spowart, R M Speed, and S McBeath
J Med Genet 1989; 26: 145-153. doi:10.1136/jmg.26.3.145 [Abstract] [PDF] [Request Permissions]

Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.
M A Patton, F Giannelli, A J Francis, M Baraitser, B Harding, and A J Williams
J Med Genet 1989; 26: 154-159. doi:10.1136/jmg.26.3.154 [Abstract] [PDF] [Request Permissions]

Does lumbosacral spina bifida arise by failure of neural folding or by defective canalisation?
A J Copp and F A Brook
J Med Genet 1989; 26: 160-166. doi:10.1136/jmg.26.3.160 [Abstract] [PDF] [Request Permissions]

Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome.
S J Fennell, J W Benson, A D Kindley, M J Schwarz, and B Czepulkowski
J Med Genet 1989; 26: 167-171. doi:10.1136/jmg.26.3.167 [Abstract] [PDF] [Request Permissions]

Distribution of haptoglobin phenotypes in oesophageal and gastric cancer.
M Jayanthi, C M Habibullah, M Ishaq, H Ali, P S Babu, and M M Ali
J Med Genet 1989; 26: 172-173. doi:10.1136/jmg.26.3.172 [Abstract] [PDF] [Request Permissions]

Spontaneous and induced chromosome breakage in chorionic villus samples: a cytogenetic approach to first trimester prenatal diagnosis of ataxia telangiectasia syndrome.
J Llerena, Jr, M Murer-Orlando, M McGuire, L Zahed, R J Sheridan, A C Berry, and M Bobrow
J Med Genet 1989; 26: 174-178. doi:10.1136/jmg.26.3.174 [Abstract] [PDF] [Request Permissions]

Medical genetics in Israel.
R M Goodman, B Bonne-Tamir, A Adam, R Voss, G Bach, Y Shiloh, M B Katznelson, G Barkai, B Goldman, and B Padeh
J Med Genet 1989; 26: 179-189. doi:10.1136/jmg.26.3.179 [PDF] [Request Permissions]

Unilateral absence of the hand in second cousins.
M Lamont and A J Salisbury
J Med Genet 1989; 26: 190-192. doi:10.1136/jmg.26.3.190 [Abstract] [PDF] [Request Permissions]

Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with X and Y specific probes.
J A Crolla, M Smith, and Z Docherty
J Med Genet 1989; 26: 192-194. doi:10.1136/jmg.26.3.192 [Abstract] [PDF] [Request Permissions]

Sibs with tetrasomy 18p born to a mother with trisomy 18p.
K Takeda, T Okamura, and T Hasegawa
J Med Genet 1989; 26: 195-197. doi:10.1136/jmg.26.3.195 [Abstract] [PDF] [Request Permissions]

An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations.
M J Clarke, D A Thomson, M J Griffiths, J G Bissenden, A Aukett, and J L Watt
J Med Genet 1989; 26: 198-201. doi:10.1136/jmg.26.3.198 [Abstract] [PDF] [Request Permissions]

Limb anomalies in the CHARGE association.
P Meinecke, A Polke, and P Schmiegelow
J Med Genet 1989; 26: 202-203. doi:10.1136/jmg.26.3.202 [Abstract] [PDF] [Request Permissions]

Interstitial deletion of 2(q33q36) in a child with congenital abnormalities.
J L Gorski, M Kiyne, W Uhlmann, K Loeffler, and T W Glover
J Med Genet 1989; 26: 204-205. doi:10.1136/jmg.26.3.204 [PDF] [Request Permissions]

Interstitial deletion of 11q.
M Guc-Scekic, G Pilic-Radivojevic, G Mrdjenovic, and M Djuric
J Med Genet 1989; 26: 205-206. doi:10.1136/jmg.26.3.205 [PDF] [Request Permissions]

Absent or hypoplastic extraocular muscles?
P E Romano
J Med Genet 1989; 26: 216. doi:10.1136/jmg.26.3.216 [PDF] [Request Permissions]

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	Correspondence C G Keith J Med Genet 1989; 26: 216. doi:10.1136/jmg.26.3.216-a [PDF] [Request Permissions]

	Deleted Yq in the sterile son of a man with a satellited Y chromosome (Yqs). A C Chandley, J R Gosden, T B Hargreave, G Spowart, R M Speed, and S McBeath J Med Genet 1989; 26: 145-153. doi:10.1136/jmg.26.3.145 [Abstract] [PDF] [Request Permissions]

	Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies. M A Patton, F Giannelli, A J Francis, M Baraitser, B Harding, and A J Williams J Med Genet 1989; 26: 154-159. doi:10.1136/jmg.26.3.154 [Abstract] [PDF] [Request Permissions]

	Does lumbosacral spina bifida arise by failure of neural folding or by defective canalisation? A J Copp and F A Brook J Med Genet 1989; 26: 160-166. doi:10.1136/jmg.26.3.160 [Abstract] [PDF] [Request Permissions]

	Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome. S J Fennell, J W Benson, A D Kindley, M J Schwarz, and B Czepulkowski J Med Genet 1989; 26: 167-171. doi:10.1136/jmg.26.3.167 [Abstract] [PDF] [Request Permissions]

	Distribution of haptoglobin phenotypes in oesophageal and gastric cancer. M Jayanthi, C M Habibullah, M Ishaq, H Ali, P S Babu, and M M Ali J Med Genet 1989; 26: 172-173. doi:10.1136/jmg.26.3.172 [Abstract] [PDF] [Request Permissions]

	Spontaneous and induced chromosome breakage in chorionic villus samples: a cytogenetic approach to first trimester prenatal diagnosis of ataxia telangiectasia syndrome. J Llerena, Jr, M Murer-Orlando, M McGuire, L Zahed, R J Sheridan, A C Berry, and M Bobrow J Med Genet 1989; 26: 174-178. doi:10.1136/jmg.26.3.174 [Abstract] [PDF] [Request Permissions]

	Medical genetics in Israel. R M Goodman, B Bonne-Tamir, A Adam, R Voss, G Bach, Y Shiloh, M B Katznelson, G Barkai, B Goldman, and B Padeh J Med Genet 1989; 26: 179-189. doi:10.1136/jmg.26.3.179 [PDF] [Request Permissions]

	Unilateral absence of the hand in second cousins. M Lamont and A J Salisbury J Med Genet 1989; 26: 190-192. doi:10.1136/jmg.26.3.190 [Abstract] [PDF] [Request Permissions]

	Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with X and Y specific probes. J A Crolla, M Smith, and Z Docherty J Med Genet 1989; 26: 192-194. doi:10.1136/jmg.26.3.192 [Abstract] [PDF] [Request Permissions]

	Sibs with tetrasomy 18p born to a mother with trisomy 18p. K Takeda, T Okamura, and T Hasegawa J Med Genet 1989; 26: 195-197. doi:10.1136/jmg.26.3.195 [Abstract] [PDF] [Request Permissions]

	An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations. M J Clarke, D A Thomson, M J Griffiths, J G Bissenden, A Aukett, and J L Watt J Med Genet 1989; 26: 198-201. doi:10.1136/jmg.26.3.198 [Abstract] [PDF] [Request Permissions]

	Limb anomalies in the CHARGE association. P Meinecke, A Polke, and P Schmiegelow J Med Genet 1989; 26: 202-203. doi:10.1136/jmg.26.3.202 [Abstract] [PDF] [Request Permissions]

	Interstitial deletion of 2(q33q36) in a child with congenital abnormalities. J L Gorski, M Kiyne, W Uhlmann, K Loeffler, and T W Glover J Med Genet 1989; 26: 204-205. doi:10.1136/jmg.26.3.204 [PDF] [Request Permissions]

	Interstitial deletion of 11q. M Guc-Scekic, G Pilic-Radivojevic, G Mrdjenovic, and M Djuric J Med Genet 1989; 26: 205-206. doi:10.1136/jmg.26.3.205 [PDF] [Request Permissions]

	Absent or hypoplastic extraocular muscles? P E Romano J Med Genet 1989; 26: 216. doi:10.1136/jmg.26.3.216 [PDF] [Request Permissions]