Reproductive medicine

Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype
E K Bijlsma, C M Aalfs, S Sluijter, M E M Oude Luttikhuis, R C Trembath, J M N Hoovers, R C M Hennekam

Journal of Medical Genetics Aug 1999, 36 (8) 604-609; DOI: 10.1136/jmg.36.8.604
Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome
Kamila Kusz, Maciej Kotecki, Alina Wojda, Maria Szarras-Czapnik, Anna Latos-Bielenska, Alina Warenik-Szymankiewicz, Anna Ruszczynska-Wolska, Jadwiga Jaruzelska

Journal of Medical Genetics Jun 1999, 36 (6) 452-456; DOI: 10.1136/jmg.36.6.452
Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome?
H C J P Janssen, C Schaap, N Vandevijver, P Moerman, C E M de Die-Smulders, J-P Fryns

Journal of Medical Genetics Jun 1999, 36 (6) 481-484; DOI: 10.1136/jmg.36.6.481
Chinese geneticists’ views of ethical issues in genetic testing and screening: evidence for eugenics in China
FRANCES FLINTER

Journal of Medical Genetics Jun 1999, 36 (6) 503; DOI: 10.1136/jmg.36.6.503a
International variation in reported livebirth prevalence rates of Down syndrome, adjusted for maternal age
Andrew D Carothers, Christina A Hecht, Ernest B Hook

Journal of Medical Genetics May 1999, 36 (5) 386-393; DOI: 10.1136/jmg.36.5.386
Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia
S Muro, C Pérez-Cerdá, P Rodríguez-Pombo, B Pérez, P Briones, A Ribes, M Ugarte

Journal of Medical Genetics May 1999, 36 (5) 412-414; DOI: 10.1136/jmg.36.5.412
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
Martina Plášilová, Ivaylo Stoilov, Mansoor Sarfarazi, Ludovít Kádasi, Eva Feráková, Vladimír Ferák

Journal of Medical Genetics Apr 1999, 36 (4) 290-294; DOI: 10.1136/jmg.36.4.290
Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples
Barbara Pertl, Susanne Kopp, Peter M Kroisel, Lucia Tului, Bruno Brambati, Matteo Adinolfi

Journal of Medical Genetics Apr 1999, 36 (4) 300-303; DOI: 10.1136/jmg.36.4.300
Trisomy/tetrasomy 21 mosaicism in CVS: interpretation of cytogenetic discrepancies between placental and fetal chromosome complements
Anna Soler, Ester Margarit, Ana Carrió, Dolors Costa, Rosa Queralt, Francisca Ballesta

Journal of Medical Genetics Apr 1999, 36 (4) 333-334; DOI: 10.1136/jmg.36.4.333
Ectopic NORs on human chromosomes 4qter and 8q11: rare chromosomal variants detected in two families
M Guttenbach, T Haaf, C Steinlein, J Caesar, A Schinzel, M Schmid

Journal of Medical Genetics Apr 1999, 36 (4) 339-342; DOI: 10.1136/jmg.36.4.339

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