Tags

Type your tag names separated by a space and hit enter

Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus.
Clin Genet. 1979 Nov; 16(5):311-6.CG

Abstract

We describe our experience in prenatal diagnosis of six foetuses at risk for galactosaemia. In one family the parents were both shown to be double heterozygotes at the galactose 1-phosphate uridyl transferase (Gal-PUT) locus, the mother having a Duarte/Los Angeles and the father a Duarte/galactosaemia genotype. The foetus (and an older brother previously thought to have classical galactosaemia) was also a Duarte/galactosaemia double heterozygote. In the other five families, the parents and three foetuses were heterozygous carriers of the galactosaemia gene, one of the foetuses had galactosaemia, and one was homozygous for the normal gene. It is concluded that by a combination of family studies and assay of cultured amniotic cell Gal-PUT, accurate prediction of the foetal Gal-PUT genotype is now possible.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

519903

Citation

Benson, P F., et al. "Prenatal Diagnosis of Galactosaemia in Six Pregnancies -- Possible Complications With Rare Alleles of the Galactose 1-phosphate Uridyl Transferase Locus." Clinical Genetics, vol. 16, no. 5, 1979, pp. 311-6.
Benson PF, Brandt NJ, Christensen E, et al. Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus. Clin Genet. 1979;16(5):311-6.
Benson, P. F., Brandt, N. J., Christensen, E., & Fensom, A. H. (1979). Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus. Clinical Genetics, 16(5), 311-6.
Benson PF, et al. Prenatal Diagnosis of Galactosaemia in Six Pregnancies -- Possible Complications With Rare Alleles of the Galactose 1-phosphate Uridyl Transferase Locus. Clin Genet. 1979;16(5):311-6. PubMed PMID: 519903.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus. AU - Benson,P F, AU - Brandt,N J, AU - Christensen,E, AU - Fensom,A H, PY - 1979/11/1/pubmed PY - 1979/11/1/medline PY - 1979/11/1/entrez SP - 311 EP - 6 JF - Clinical genetics JO - Clin Genet VL - 16 IS - 5 N2 - We describe our experience in prenatal diagnosis of six foetuses at risk for galactosaemia. In one family the parents were both shown to be double heterozygotes at the galactose 1-phosphate uridyl transferase (Gal-PUT) locus, the mother having a Duarte/Los Angeles and the father a Duarte/galactosaemia genotype. The foetus (and an older brother previously thought to have classical galactosaemia) was also a Duarte/galactosaemia double heterozygote. In the other five families, the parents and three foetuses were heterozygous carriers of the galactosaemia gene, one of the foetuses had galactosaemia, and one was homozygous for the normal gene. It is concluded that by a combination of family studies and assay of cultured amniotic cell Gal-PUT, accurate prediction of the foetal Gal-PUT genotype is now possible. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/519903/Prenatal_diagnosis_of_galactosaemia_in_six_pregnancies____possible_complications_with_rare_alleles_of_the_galactose_1_phosphate_uridyl_transferase_locus_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1979&volume=16&issue=5&spage=311 DB - PRIME DP - Unbound Medicine ER -