Two unrelated children with distal long arm deletion of chromosome 7: clinical features, cytogenetic and gene marker studies

Abstract

Two phenotypically abnormal, unrelated children with deletion of the distal segment of 7q (7q32→pter) are described. In one instance the mother was the carrier of a balanced translocation between chromosomes 6 and 7, and in the second case the deletion was a de novo event. Their phenotypes were compared to previously reported cases and found to have many non‐specific clinical features in common. Gene marker studies for some of the genes tentatively localized to chromosome 7 showed no anomalous segregation. The Hageman coagulation factor (Factor XII) activity in bath probands was normal, and hetero‐zygosity for alleles of the Kidd blood group in the first proband excludes assignment of the Kidd locus to the distal portion of chromosome 7q.