Monosomy 18p and pure trisomy 18p in a family with translocation (7;18).

Abstract

A three generation pedigree is described in which there are two carriers of translocation t(7;18). Two members of the family have trisomy 18p and a stillborn child had monosomy 18p and holoprosencephaly. Another stillborn child probably had holoprosencephaly; the karyotype was not analysed. Based on this observation, the occasional occurrence of holoprosencephaly in monosomy 18p (10% of previously reported cases) may not be the result of the expression of a recessive mutant gene in the hemizygous state, as assumed up to now.

• Authors: M Habedank, G Trost-Brinkhues
• Journal: Journal of medical genetics (J Med Genet) Vol. 20 Issue 5 Pg. 377-9 (Oct 1983) ISSN: 0022-2593 [Print] England
• PMID: 6644768 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Adult
• Child, Preschool
• Chromosome Aberrations
• Chromosomes, Human, 16-18
• Chromosomes, Human, 6-12 and X
• Face (abnormalities)
• Female
• Humans
• Infant, Newborn
• Male
• Translocation, Genetic
• Trisomy