Volume 22; Issue 1

Journal of Medical Genetics

Volume 22; Issue 1

1

A family with three independent autosomal translocations associated with 7q32----7qter syndrome.

Bass, H N, Sparkes, R S, Lessner, M M, Fox, M, Phoenix, B, Bernar, J

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 973 KB

english, 1985

2

Discordant sex in one of three monozygotic triplets.

Dallapiccola, B, Stomeo, C, Ferranti, G, Di Lecce, A, Purpura, M

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 770 KB

english, 1985

3

Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.

Bernstein, R, Isdale, J, Pinto, M, Du Toit Zaaijman, J, Jenkins, T

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 1.41 MB

english, 1985

4

Increased frequency of lymphocytic mitotic non-disjunction in recurrent spontaneous aborters.

Juberg, R C, Knops, J, Mowrey, P N

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 519 KB

english, 1985

5

A child with a recombinant of chromosome 8 inherited from her carrier mother.

Barnes, I C, Kumar, D, Bell, R J

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 698 KB

english, 1985

6

The estimation of recurrence risks in monogenic disorders using flanking marker loci.

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 440 KB

english, 1985

7

beta (+)-Thalassaemia in the Po river delta region (northern Italy): genotype and beta globin synthesis.

Del Senno, L, Pirastu, M, Barbieri, R, Bernardi, F, Buzzoni, D, Marchetti, G, Perrotta, C, Vullo, C, Kan, Y W, Conconi, F

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 691 KB

english, 1985

8

'Pure' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1).

Plessis, G, Couturier, J, Turleau, C, Despoisses, S, Delavenne, J

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 782 KB

english, 1985

9

Trigonocephaly and the Opitz C syndrome.

Sargent, C, Burn, J, Baraitser, M, Pembrey, M E

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 1.16 MB

english, 1985

10

Editorial

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 803 KB

english, 1985

11

Investigation of human chromosome polymorphisms by scanning electron microscopy.

Harrison, C J, Jack, E M, Allen, T D, Harris, R

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 1.88 MB

english, 1985

12

Familial opposable triphalangeal thumbs associated with duplication of the big toes.

Merlob, P, Grunebaum, M, Reisner, S H

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 571 KB

english, 1985

13

The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect?

Lindenbaum, R H, Hulten, M, McDermott, A, Seabright, M

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 731 KB

english, 1985

14

De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells.

Motegi, T, Watanabe, K, Nakamura, N, Hasegawa, T, Yanagawa, Y

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 539 KB

english, 1985

15

Partial trisomy 12q24.31----qter.

Tajara, E H, Varella-Garcia, M, Gusson, A C

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 709 KB

english, 1985

16

Fraser syndrome presenting as monozygotic twins with bilateral renal agenesis

Mortimer, G, McEwan, H P, Yates, J R W

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 473 KB

english, 1985

17

A complex balanced rearrangement involving four chromosomes in an azoospermic man.

Rodriguez, M T, Martin, M J, Abrisqueta, J A

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 316 KB

english, 1985

18

Reduced penetrance in tuberous sclerosis.

Baraitser, M, Patton, M A

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 394 KB

english, 1985

19

Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome.

Al-Awadi, S A, Teebi, A S, Farag, T I, Naguib, K M, el-Khalifa, M Y

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 774 KB

english, 1985