Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4.

Abstract

We report a family in which Wolf-Hirschhorn syndrome in two children with partial monosomy of the short arm of chromosome 4 is the result of unbalanced segregation of a reciprocal 4;12 translocation in the mother. Studies with the DNA probe G8 show that the translocation breakpoint in this family is distal to the D4S10 locus. Previously reported cases of Wolf-Hirschhorn syndrome have involved the deletion of D4S10. These observations may prove helpful in the search for better genetic markers for Huntington's chorea, which maps close to D4S10.

• Authors: C McKeown, A P Read, A Dodge, O Stecko, A Mercer, R Harris
• Journal: Journal of medical genetics (J Med Genet) Vol. 24 Issue 7 Pg. 410-2 (Jul 1987) ISSN: 0022-2593 [Print] England
• PMID: 3612716 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Abnormalities, Multiple (genetics)
• Bone Diseases, Developmental (genetics)
• Child
• Chromosome Deletion
• Chromosome Mapping
• Chromosomes, Human, Pair 12 (ultrastructure)
• Chromosomes, Human, Pair 4 (ultrastructure)
• Female
• Humans
• Hypertelorism (genetics)
• Infant
• Karyotyping
• Male
• Microcephaly (genetics)
• Pedigree
• Syndrome
• Translocation, Genetic