Pallister-Killian syndrome diagnosed by chorionic villus sampling

M Sharland; L Hill; R Patel; M Patton

doi:10.1002/pd.1970110712

Pallister-Killian syndrome diagnosed by chorionic villus sampling

Prenat Diagn. 1991 Jul;11(7):477-9. doi: 10.1002/pd.1970110712.

Authors

M Sharland¹, L Hill, R Patel, M Patton

Affiliation

¹ Department of Genetics, St George's Hospital Medical School, Tooting, London, U.K.

PMID: 1754566
DOI: 10.1002/pd.1970110712

Abstract

The first prenatal diagnosis of Pallister-Killian syndrome by chorionic villus sampling is presented. Fetal hydrops was noted on ultrasound in early pregnancy, and the karyotype revealed isochromosome 12p mosaicism.

Publication types

Case Reports

MeSH terms

Adult
Chorionic Villi Sampling
Chromosome Aberrations / diagnosis*
Chromosome Disorders
Chromosomes, Human, Pair 12
Female
Humans
Hydrops Fetalis / diagnostic imaging
Karyotyping
Mosaicism
Pregnancy
Ultrasonography, Prenatal