Karyotype analyses made from photomicrographs of 1303 human somatic cells derived
mainly from peripheral leucocyte cultures obtained during the investigation of patients for …

Over a 2‐year period from January 1991 to December 1992, second‐trimester maternal
serum screening for Down's syndrome using alpha‐fetoprotein (aFP), human chorionic …

A prospective study was undertaken to evaluate the use of fluorescence in situ hybridization
(FISH) for the detection of trisomy 21 in interphase nuclei of uncultured amniotic fluid cells …

In a family with a history of two neonatal deaths, propionicacidaemia was diagnosed
retrospectively from stored plasma as the cause of the second death during the mother's …

We describe a 17 year old male with a low level of trisomy 9 mosaicism. Maternal
uniparental chromosome 9 disomy in the euploid cell line was shown to have arisen after …

During one year, five second trimester fetuses with cystic hygromata and varying degrees of
oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had …

Chromosome analysis of amniotic cell cultures was achieved in 29 out of 30 consecutive
patients who were referred for genetic counselling during pregnancy. Amniocentesis was …

We have used bivariate flow karyotype analysis to quantify aberrant X chromosome size in
11 XX males. With one exception, the patients could be grouped into those with an X …

Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic
expression of a human mitotic mutant? Page 1 Hum Genet (1988) 80:197-200 © Springer-Verlag …

In patients with structural aberrations of the sex chromosomes a direct relationhas been
found be-tween the phenotype and the extent and site of sex chromosomal deletion …