Pseudotrisomy 13 and autosomal recessive holoprosencephaly

J Med Genet. 1993 Nov;30(11):970-1. doi: 10.1136/jmg.30.11.970.

Abstract

Two sibs, diagnosed prenatally, had holoprosencephaly, midface hypoplasia, and normal chromosomes. The first fetus also had polydactyly. This sibship may represent an example of autosomal recessive pseudotrisomy 13.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Abnormalities, Multiple / embryology
  • Abnormalities, Multiple / genetics*
  • Abortion, Therapeutic
  • Adult
  • Chromosome Aberrations / diagnosis
  • Chromosome Disorders
  • Chromosomes, Human, Pair 13
  • Diagnosis, Differential
  • Female
  • Genes, Recessive*
  • Holoprosencephaly / embryology
  • Holoprosencephaly / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mosaicism
  • Polydactyly / genetics
  • Pregnancy
  • Sex Chromosome Aberrations / genetics
  • Syndrome
  • Trisomy
  • Ultrasonography, Prenatal