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September 1991 (Volume 28, Number 9). [Index by author]

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Book Reviews

Genomic Imprinting
E R Maher
J Med Genet 1991; 28: 647. doi:10.1136/jmg.28.9.647 [PDF] [Request Permissions]

Chromosome Banding
John Barber
J Med Genet 1991; 28: 647-648. doi:10.1136/jmg.28.9.647-a [PDF] [Request Permissions]

Research Article

Chromosome in situ suppression hybridisation in clinical cytogenetics.
M A Hulten, C P Gould, A S Goldman, and J J Waters
J Med Genet 1991; 28: 577-582. doi:10.1136/jmg.28.9.577 [Abstract] [PDF] [Request Permissions]

Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17.
M C Koch, K Ricker, M Otto, T Grimm, E P Hoffman, R Rüdel, K Bender, B Zoll, P S Harper, and F Lehmann-Horn
J Med Genet 1991; 28: 583-586. doi:10.1136/jmg.28.9.583 [Abstract] [PDF] [Request Permissions]

The human genes for complement components 6 (C6) and 9 (C9) are closely linked on chromosome 5.
S Rogne, O Myklebost, J H Olving, H T Kyrkjebø, R Jonassen, B Olaisen, and T Gedde-Dahl, Jr
J Med Genet 1991; 28: 587-590. doi:10.1136/jmg.28.9.587 [Abstract] [PDF] [Request Permissions]

Use of probes for ZFY, SRY, and the Y pseudoautosomal boundary in XX males, XX true hermaphrodites, and an XY female.
E T Pereira, J C de Almeida, A C Gunha, M Patton, R Taylor, and S Jeffery
J Med Genet 1991; 28: 591-595. doi:10.1136/jmg.28.9.591 [Abstract] [PDF] [Request Permissions]

Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.
A H Lipson, D Yuille, M Angel, P G Thompson, J G Vandervoord, and E J Beckenham
J Med Genet 1991; 28: 596-604. doi:10.1136/jmg.28.9.596 [Abstract] [PDF] [Request Permissions]

Do familial neural tube defects breed true?
E Drainer, H M May, and J L Tolmie
J Med Genet 1991; 28: 605-608. doi:10.1136/jmg.28.9.605 [Abstract] [PDF] [Request Permissions]

49,XXXXY syndrome: behavioural and developmental profiles.
C A Lomelino and A L Reiss
J Med Genet 1991; 28: 609-612. doi:10.1136/jmg.28.9.609 [Abstract] [PDF] [Request Permissions]

Birth distribution in cystic fibrosis in Saguenay-Lac-St-Jean, Quebec, Canada.
J Daigneault, G Aubin, F Simard, and M De Braekeleer
J Med Genet 1991; 28: 613-614. doi:10.1136/jmg.28.9.613 [Abstract] [PDF] [Request Permissions]

High 64Cu uptake and retention values in two clinically atypical Menkes patients.
T Tønnesen, C Garrett, and A M Gerdes
J Med Genet 1991; 28: 615-618. doi:10.1136/jmg.28.9.615 [Abstract] [PDF] [Request Permissions]

Microcephaly-cardiomyopathy: a new autosomal recessive phenotype?
I M Winship, D L Viljoen, P M Leary, and M M De Moor
J Med Genet 1991; 28: 619-621. doi:10.1136/jmg.28.9.619 [Abstract] [PDF] [Request Permissions]

Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?
W Reardon, C M Hall, M J Dillon, and M Baraitser
J Med Genet 1991; 28: 622-626. doi:10.1136/jmg.28.9.622 [Abstract] [PDF] [Request Permissions]

Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.
A Moncla, M O Livet, M Auger, J F Mattei, M G Mattei, and F Giraud
J Med Genet 1991; 28: 627-632. doi:10.1136/jmg.28.9.627 [Abstract] [PDF] [Request Permissions]

A new recessive syndrome of unusual facies and multiple structural abnormalities.
Y Thakker and D Donnai
J Med Genet 1991; 28: 633-635. doi:10.1136/jmg.28.9.633 [Abstract] [PDF] [Request Permissions]

Postaxial acrofacial dysostosis (Miller) syndrome: a new case.
J Vigneron, M Stricker, P Vert, J M Rousselot, and M Levy
J Med Genet 1991; 28: 636-638. doi:10.1136/jmg.28.9.636 [Abstract] [PDF] [Request Permissions]

A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.
M Ireland, C English, I Cross, W T Houlsby, and J Burn
J Med Genet 1991; 28: 639-640. doi:10.1136/jmg.28.9.639 [Abstract] [PDF] [Request Permissions]

Mosaic partial trisomy 17q2.
P A King, A Ghosh, and M Tang
J Med Genet 1991; 28: 641-643. doi:10.1136/jmg.28.9.641 [Abstract] [PDF] [Request Permissions]

The frequency of mental retardation in hypochondroplasia.
R Wynne-Davies and M A Patton
J Med Genet 1991; 28: 644. doi:10.1136/jmg.28.9.644 [PDF] [Request Permissions]

Unusual inheritance of Becker type muscular dystrophy.
R Lisker, O Mutchinick, and L Ruz
J Med Genet 1991; 28: 644. doi:10.1136/jmg.28.9.644-a [PDF] [Request Permissions]

Haematometra in the Langer-Giedion syndrome.
M W Partington, J Rae, and M J Payne
J Med Genet 1991; 28: 644-645. doi:10.1136/jmg.28.9.644-b [PDF] [Request Permissions]

Two additional patients representing the possible human homologue for the mouse mutant disorganisation (Ds)
A E Lin
J Med Genet 1991; 28: 645-647. doi:10.1136/jmg.28.9.645 [PDF] [Request Permissions]

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	Genomic Imprinting E R Maher J Med Genet 1991; 28: 647. doi:10.1136/jmg.28.9.647 [PDF] [Request Permissions]

	Chromosome Banding John Barber J Med Genet 1991; 28: 647-648. doi:10.1136/jmg.28.9.647-a [PDF] [Request Permissions]

	Chromosome in situ suppression hybridisation in clinical cytogenetics. M A Hulten, C P Gould, A S Goldman, and J J Waters J Med Genet 1991; 28: 577-582. doi:10.1136/jmg.28.9.577 [Abstract] [PDF] [Request Permissions]

	Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17. M C Koch, K Ricker, M Otto, T Grimm, E P Hoffman, R Rüdel, K Bender, B Zoll, P S Harper, and F Lehmann-Horn J Med Genet 1991; 28: 583-586. doi:10.1136/jmg.28.9.583 [Abstract] [PDF] [Request Permissions]

	The human genes for complement components 6 (C6) and 9 (C9) are closely linked on chromosome 5. S Rogne, O Myklebost, J H Olving, H T Kyrkjebø, R Jonassen, B Olaisen, and T Gedde-Dahl, Jr J Med Genet 1991; 28: 587-590. doi:10.1136/jmg.28.9.587 [Abstract] [PDF] [Request Permissions]

	Use of probes for ZFY, SRY, and the Y pseudoautosomal boundary in XX males, XX true hermaphrodites, and an XY female. E T Pereira, J C de Almeida, A C Gunha, M Patton, R Taylor, and S Jeffery J Med Genet 1991; 28: 591-595. doi:10.1136/jmg.28.9.591 [Abstract] [PDF] [Request Permissions]

	Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise. A H Lipson, D Yuille, M Angel, P G Thompson, J G Vandervoord, and E J Beckenham J Med Genet 1991; 28: 596-604. doi:10.1136/jmg.28.9.596 [Abstract] [PDF] [Request Permissions]

	Do familial neural tube defects breed true? E Drainer, H M May, and J L Tolmie J Med Genet 1991; 28: 605-608. doi:10.1136/jmg.28.9.605 [Abstract] [PDF] [Request Permissions]

	49,XXXXY syndrome: behavioural and developmental profiles. C A Lomelino and A L Reiss J Med Genet 1991; 28: 609-612. doi:10.1136/jmg.28.9.609 [Abstract] [PDF] [Request Permissions]

	Birth distribution in cystic fibrosis in Saguenay-Lac-St-Jean, Quebec, Canada. J Daigneault, G Aubin, F Simard, and M De Braekeleer J Med Genet 1991; 28: 613-614. doi:10.1136/jmg.28.9.613 [Abstract] [PDF] [Request Permissions]

	High 64Cu uptake and retention values in two clinically atypical Menkes patients. T Tønnesen, C Garrett, and A M Gerdes J Med Genet 1991; 28: 615-618. doi:10.1136/jmg.28.9.615 [Abstract] [PDF] [Request Permissions]

	Microcephaly-cardiomyopathy: a new autosomal recessive phenotype? I M Winship, D L Viljoen, P M Leary, and M M De Moor J Med Genet 1991; 28: 619-621. doi:10.1136/jmg.28.9.619 [Abstract] [PDF] [Request Permissions]

	Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome? W Reardon, C M Hall, M J Dillon, and M Baraitser J Med Genet 1991; 28: 622-626. doi:10.1136/jmg.28.9.622 [Abstract] [PDF] [Request Permissions]

	Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases. A Moncla, M O Livet, M Auger, J F Mattei, M G Mattei, and F Giraud J Med Genet 1991; 28: 627-632. doi:10.1136/jmg.28.9.627 [Abstract] [PDF] [Request Permissions]

	A new recessive syndrome of unusual facies and multiple structural abnormalities. Y Thakker and D Donnai J Med Genet 1991; 28: 633-635. doi:10.1136/jmg.28.9.633 [Abstract] [PDF] [Request Permissions]

	Postaxial acrofacial dysostosis (Miller) syndrome: a new case. J Vigneron, M Stricker, P Vert, J M Rousselot, and M Levy J Med Genet 1991; 28: 636-638. doi:10.1136/jmg.28.9.636 [Abstract] [PDF] [Request Permissions]

	A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome. M Ireland, C English, I Cross, W T Houlsby, and J Burn J Med Genet 1991; 28: 639-640. doi:10.1136/jmg.28.9.639 [Abstract] [PDF] [Request Permissions]

	Mosaic partial trisomy 17q2. P A King, A Ghosh, and M Tang J Med Genet 1991; 28: 641-643. doi:10.1136/jmg.28.9.641 [Abstract] [PDF] [Request Permissions]

	The frequency of mental retardation in hypochondroplasia. R Wynne-Davies and M A Patton J Med Genet 1991; 28: 644. doi:10.1136/jmg.28.9.644 [PDF] [Request Permissions]

	Unusual inheritance of Becker type muscular dystrophy. R Lisker, O Mutchinick, and L Ruz J Med Genet 1991; 28: 644. doi:10.1136/jmg.28.9.644-a [PDF] [Request Permissions]

	Haematometra in the Langer-Giedion syndrome. M W Partington, J Rae, and M J Payne J Med Genet 1991; 28: 644-645. doi:10.1136/jmg.28.9.644-b [PDF] [Request Permissions]

	Two additional patients representing the possible human homologue for the mouse mutant disorganisation (Ds) A E Lin J Med Genet 1991; 28: 645-647. doi:10.1136/jmg.28.9.645 [PDF] [Request Permissions]