Two unrelated children with distal long arm deletion of chromosome 7: clinical features, cytogenetic and gene marker studies.
Two phenotypically abnormal, unrelated children with deletion of the distal segment of 7q (7q32 leads to 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 phenotype 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 both probands was normal, and heterozygosity for alleles of the Kidd blood group in the first proband excludes assignment of the Kidd locus to the distal portion of chromosome 7q.
D000015:Abnormalities, Multiple / Q000097:blood / Q000235:genetics*; D001780:Blood Coagulation Tests; D002630:Chemotactic Factors; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000097:blood / Q000235:genetics; D008297:Male; D014178:Translocation, Genetic
D002630:Chemotactic Factors; D005819:Genetic Markers