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July 1993 (Volume 30, Number 7). [Index by author]

		Abstracts Book Reviews Letters to the Editor Research Article

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Abstracts

Medical genetics: advances in brief: Association of facial hemangiomas with the Dandy-Walker and other posterior fossa malformations
David Fitzpatrick
J Med Genet 1993; 30: 620. doi:10.1136/jmg.30.7.620 [PDF] [Request Permissions]

Medical genetics: advances in brief: Rubinstein-Taybi syndrome caused by submicroscopic deletions with 16p13.3
Judith Goodship
J Med Genet 1993; 30: 620. doi:10.1136/jmg.30.7.620-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus
Andrew Norman
J Med Genet 1993; 30: 620. doi:10.1136/jmg.30.7.620-b [PDF] [Request Permissions]

Medical genetics: advances in brief: A novel meosin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumour suppressor
N S Thakker
J Med Genet 1993; 30: 620. doi:10.1136/jmg.30.7.620-c [PDF] [Request Permissions]

Medical genetics: advances in brief: Medical genetics: advances in brief
Andrew Wilkie
J Med Genet 1993; 30: 620. doi:10.1136/jmg.30.7.620-d [PDF] [Request Permissions]

Book Reviews

Transgenic animals
Andrew Wilkie
J Med Genet 1993; 30: 623. doi:10.1136/jmg.30.7.623 [PDF] [Request Permissions]

The New Genetics of Mental Illness
T J Crow
J Med Genet 1993; 30: 623-624. doi:10.1136/jmg.30.7.623-a [PDF] [Request Permissions]

Letters to the Editor

Reply
Zofia Miedzybrodzka, Neva Haites, and John Dean
J Med Genet 1993; 30: 621. doi:10.1136/jmg.30.7.621-b [PDF] [Request Permissions]

Research Article

Psychosocial genetics: an emerging scientific discipline.
P S Harper
J Med Genet 1993; 30: 537. doi:10.1136/jmg.30.7.537 [PDF] [Request Permissions]

What young people think and do when the option for cystic fibrosis carrier testing is available.
J Mitchell, C R Scriver, C L Clow, and F Kaplan
J Med Genet 1993; 30: 538-542. doi:10.1136/jmg.30.7.538 [Abstract] [PDF] [Request Permissions]

Prenatal screening for cystic fibrosis: psychological effects on carriers and their partners.
M E Mennie, M E Compton, A Gilfillan, W A Liston, I Pullen, D A Whyte, and D J Brock
J Med Genet 1993; 30: 543-548. doi:10.1136/jmg.30.7.543 [Abstract] [PDF] [Request Permissions]

Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment.
S Adam, S Wiggins, P Whyte, M Bloch, M H Shokeir, H Soltan, W Meschino, A Summers, O Suchowersky, and J P Welch
J Med Genet 1993; 30: 549-556. doi:10.1136/jmg.30.7.549 [Abstract] [PDF] [Request Permissions]

Perception of predictive testing for Huntington's disease by young women: preferring uncertainty to certainty?
M Decruyenaere, G Evers-Kiebooms, and H Van den Berghe
J Med Genet 1993; 30: 557-561. doi:10.1136/jmg.30.7.557 [Abstract] [PDF] [Request Permissions]

Genetic risk: women's understanding of carrier risks in Duchenne muscular dystrophy.
E P Parsons and A J Clarke
J Med Genet 1993; 30: 562-566. doi:10.1136/jmg.30.7.562 [Abstract] [PDF] [Request Permissions]

Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families.
C M Benjamin, A Colley, D Donnai, H Kingston, R Harris, and L Kerzin-Storrar
J Med Genet 1993; 30: 567-574. doi:10.1136/jmg.30.7.567 [Abstract] [PDF] [Request Permissions]

Psychosocial issues raised by a familial ovarian cancer register.
J Green, F Murton, and H Statham
J Med Genet 1993; 30: 575-579. doi:10.1136/jmg.30.7.575 [Abstract] [PDF] [Request Permissions]

'Inside-out', back-to-front: a model for clinical population genetic screening.
D Shickle and I Harvey
J Med Genet 1993; 30: 580-582. doi:10.1136/jmg.30.7.580 [Abstract] [PDF] [Request Permissions]

Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie.
K Zerres, S Rudnik-Schöneborn, and F Deget
J Med Genet 1993; 30: 583-588. doi:10.1136/jmg.30.7.583 [Abstract] [PDF] [Request Permissions]

Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness.
S Eggers, M R Passos-Bueno, and M Zatz
J Med Genet 1993; 30: 589-592. doi:10.1136/jmg.30.7.589 [Abstract] [PDF] [Request Permissions]

An epidemiological study of isolated split hand/foot in Hungary, 1975-1984.
A E Czeizel, M Vitéz, I Kodaj, and W Lenz
J Med Genet 1993; 30: 593-596. doi:10.1136/jmg.30.7.593 [Abstract] [PDF] [Request Permissions]

Second polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidy.
U Müller, J L Weber, P Berry, and K G Kupke
J Med Genet 1993; 30: 597-600. doi:10.1136/jmg.30.7.597 [Abstract] [PDF] [Request Permissions]

Trisomy 10qter confirmed by in situ hybridisation.
V Briscioli, G Floridia, E Rossi, A Selicorni, F Lalatta, and O Zuffardi
J Med Genet 1993; 30: 601-603. doi:10.1136/jmg.30.7.601 [Abstract] [PDF] [Request Permissions]

Deletion of chromosome 2 (p11-p13): case report and review.
V P Prasher, V H Krishnan, D J Clarke, C T Maliszewska, and J A Corbett
J Med Genet 1993; 30: 604-606. doi:10.1136/jmg.30.7.604 [Abstract] [PDF] [Request Permissions]

Two sibs with unbalanced translocations in the Waardenburg gene region.
L I al Gazali and R Quaife
J Med Genet 1993; 30: 607-609. doi:10.1136/jmg.30.7.607 [Abstract] [PDF] [Request Permissions]

Mild phenotypic manifestation of a 7p15.3p21.2 deletion.
C Wang, S Maynard, T W Glover, and L G Biesecker
J Med Genet 1993; 30: 610-612. doi:10.1136/jmg.30.7.610 [Abstract] [PDF] [Request Permissions]

Extra G positive band on the long arm of chromosome 9.
L A Knight, G M Soon, and M Tan
J Med Genet 1993; 30: 613. doi:10.1136/jmg.30.7.613 [Abstract] [PDF] [Request Permissions]

Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation.
E Bocian, T Mazurczak, E Bulawa, H Stanczak, and G Rowicka
J Med Genet 1993; 30: 614-615. doi:10.1136/jmg.30.7.614 [Abstract] [PDF] [Request Permissions]

Presymptomatic testing for autosomal dominant spinocerebellar ataxia type 1.
A E Shrimpton, R Davidson, N MacDonald, and D J Brock
J Med Genet 1993; 30: 616-617. doi:10.1136/jmg.30.7.616 [Abstract] [PDF] [Request Permissions]

Dyskeratosis congenita: three additional families show linkage to a locus in Xq28.
R Arngrimsson, I Dokal, L Luzzatto, and J M Connor
J Med Genet 1993; 30: 618-619. doi:10.1136/jmg.30.7.618 [Abstract] [PDF] [Request Permissions]

Cystic fibrosis and deafness.
J C Llerena Júnior, W Degrave, A De Miranda, and P Suffys
J Med Genet 1993; 30: 621. doi:10.1136/jmg.30.7.621 [PDF] [Request Permissions]

Approaches to prenatal cystic fibrosis carrier screening.
D Brock
J Med Genet 1993; 30: 621. doi:10.1136/jmg.30.7.621-a [PDF] [Request Permissions]

Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.
T Bienvenu, C Beldjord, N Fonknechten, J C Kaplan, and G Lenoir
J Med Genet 1993; 30: 621-622. doi:10.1136/jmg.30.7.621-c [PDF] [Request Permissions]

Cutis laxa and the Costello syndrome.
M A Patton and M Baraitser
J Med Genet 1993; 30: 622. doi:10.1136/jmg.30.7.622 [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Association of facial hemangiomas with the Dandy-Walker and other posterior fossa malformations David Fitzpatrick J Med Genet 1993; 30: 620. doi:10.1136/jmg.30.7.620 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Rubinstein-Taybi syndrome caused by submicroscopic deletions with 16p13.3 Judith Goodship J Med Genet 1993; 30: 620. doi:10.1136/jmg.30.7.620-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus Andrew Norman J Med Genet 1993; 30: 620. doi:10.1136/jmg.30.7.620-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: A novel meosin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumour suppressor N S Thakker J Med Genet 1993; 30: 620. doi:10.1136/jmg.30.7.620-c [PDF] [Request Permissions]

	Medical genetics: advances in brief: Medical genetics: advances in brief Andrew Wilkie J Med Genet 1993; 30: 620. doi:10.1136/jmg.30.7.620-d [PDF] [Request Permissions]

	Transgenic animals Andrew Wilkie J Med Genet 1993; 30: 623. doi:10.1136/jmg.30.7.623 [PDF] [Request Permissions]

	The New Genetics of Mental Illness T J Crow J Med Genet 1993; 30: 623-624. doi:10.1136/jmg.30.7.623-a [PDF] [Request Permissions]

	Reply Zofia Miedzybrodzka, Neva Haites, and John Dean J Med Genet 1993; 30: 621. doi:10.1136/jmg.30.7.621-b [PDF] [Request Permissions]

	Psychosocial genetics: an emerging scientific discipline. P S Harper J Med Genet 1993; 30: 537. doi:10.1136/jmg.30.7.537 [PDF] [Request Permissions]

	What young people think and do when the option for cystic fibrosis carrier testing is available. J Mitchell, C R Scriver, C L Clow, and F Kaplan J Med Genet 1993; 30: 538-542. doi:10.1136/jmg.30.7.538 [Abstract] [PDF] [Request Permissions]

	Prenatal screening for cystic fibrosis: psychological effects on carriers and their partners. M E Mennie, M E Compton, A Gilfillan, W A Liston, I Pullen, D A Whyte, and D J Brock J Med Genet 1993; 30: 543-548. doi:10.1136/jmg.30.7.543 [Abstract] [PDF] [Request Permissions]

	Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment. S Adam, S Wiggins, P Whyte, M Bloch, M H Shokeir, H Soltan, W Meschino, A Summers, O Suchowersky, and J P Welch J Med Genet 1993; 30: 549-556. doi:10.1136/jmg.30.7.549 [Abstract] [PDF] [Request Permissions]

	Perception of predictive testing for Huntington's disease by young women: preferring uncertainty to certainty? M Decruyenaere, G Evers-Kiebooms, and H Van den Berghe J Med Genet 1993; 30: 557-561. doi:10.1136/jmg.30.7.557 [Abstract] [PDF] [Request Permissions]

	Genetic risk: women's understanding of carrier risks in Duchenne muscular dystrophy. E P Parsons and A J Clarke J Med Genet 1993; 30: 562-566. doi:10.1136/jmg.30.7.562 [Abstract] [PDF] [Request Permissions]

	Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families. C M Benjamin, A Colley, D Donnai, H Kingston, R Harris, and L Kerzin-Storrar J Med Genet 1993; 30: 567-574. doi:10.1136/jmg.30.7.567 [Abstract] [PDF] [Request Permissions]

	Psychosocial issues raised by a familial ovarian cancer register. J Green, F Murton, and H Statham J Med Genet 1993; 30: 575-579. doi:10.1136/jmg.30.7.575 [Abstract] [PDF] [Request Permissions]

	'Inside-out', back-to-front: a model for clinical population genetic screening. D Shickle and I Harvey J Med Genet 1993; 30: 580-582. doi:10.1136/jmg.30.7.580 [Abstract] [PDF] [Request Permissions]

	Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie. K Zerres, S Rudnik-Schöneborn, and F Deget J Med Genet 1993; 30: 583-588. doi:10.1136/jmg.30.7.583 [Abstract] [PDF] [Request Permissions]

	Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness. S Eggers, M R Passos-Bueno, and M Zatz J Med Genet 1993; 30: 589-592. doi:10.1136/jmg.30.7.589 [Abstract] [PDF] [Request Permissions]

	An epidemiological study of isolated split hand/foot in Hungary, 1975-1984. A E Czeizel, M Vitéz, I Kodaj, and W Lenz J Med Genet 1993; 30: 593-596. doi:10.1136/jmg.30.7.593 [Abstract] [PDF] [Request Permissions]

	Second polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidy. U Müller, J L Weber, P Berry, and K G Kupke J Med Genet 1993; 30: 597-600. doi:10.1136/jmg.30.7.597 [Abstract] [PDF] [Request Permissions]

	Trisomy 10qter confirmed by in situ hybridisation. V Briscioli, G Floridia, E Rossi, A Selicorni, F Lalatta, and O Zuffardi J Med Genet 1993; 30: 601-603. doi:10.1136/jmg.30.7.601 [Abstract] [PDF] [Request Permissions]

	Deletion of chromosome 2 (p11-p13): case report and review. V P Prasher, V H Krishnan, D J Clarke, C T Maliszewska, and J A Corbett J Med Genet 1993; 30: 604-606. doi:10.1136/jmg.30.7.604 [Abstract] [PDF] [Request Permissions]

	Two sibs with unbalanced translocations in the Waardenburg gene region. L I al Gazali and R Quaife J Med Genet 1993; 30: 607-609. doi:10.1136/jmg.30.7.607 [Abstract] [PDF] [Request Permissions]

	Mild phenotypic manifestation of a 7p15.3p21.2 deletion. C Wang, S Maynard, T W Glover, and L G Biesecker J Med Genet 1993; 30: 610-612. doi:10.1136/jmg.30.7.610 [Abstract] [PDF] [Request Permissions]

	Extra G positive band on the long arm of chromosome 9. L A Knight, G M Soon, and M Tan J Med Genet 1993; 30: 613. doi:10.1136/jmg.30.7.613 [Abstract] [PDF] [Request Permissions]

	Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation. E Bocian, T Mazurczak, E Bulawa, H Stanczak, and G Rowicka J Med Genet 1993; 30: 614-615. doi:10.1136/jmg.30.7.614 [Abstract] [PDF] [Request Permissions]

	Presymptomatic testing for autosomal dominant spinocerebellar ataxia type 1. A E Shrimpton, R Davidson, N MacDonald, and D J Brock J Med Genet 1993; 30: 616-617. doi:10.1136/jmg.30.7.616 [Abstract] [PDF] [Request Permissions]

	Dyskeratosis congenita: three additional families show linkage to a locus in Xq28. R Arngrimsson, I Dokal, L Luzzatto, and J M Connor J Med Genet 1993; 30: 618-619. doi:10.1136/jmg.30.7.618 [Abstract] [PDF] [Request Permissions]

	Cystic fibrosis and deafness. J C Llerena Júnior, W Degrave, A De Miranda, and P Suffys J Med Genet 1993; 30: 621. doi:10.1136/jmg.30.7.621 [PDF] [Request Permissions]

	Approaches to prenatal cystic fibrosis carrier screening. D Brock J Med Genet 1993; 30: 621. doi:10.1136/jmg.30.7.621-a [PDF] [Request Permissions]

	Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene. T Bienvenu, C Beldjord, N Fonknechten, J C Kaplan, and G Lenoir J Med Genet 1993; 30: 621-622. doi:10.1136/jmg.30.7.621-c [PDF] [Request Permissions]

	Cutis laxa and the Costello syndrome. M A Patton and M Baraitser J Med Genet 1993; 30: 622. doi:10.1136/jmg.30.7.622 [PDF] [Request Permissions]