title: A large kindred with an INV(3)(p25q23): clinical, cytogenetic and genetic marker studies.
abstract: A large kindred in which an inv(3)(p25q23) is segregating is described. At least two malformed children with the recombinant chromosome rec(3)dup(q23 leads to qter)del(p25 leads to pter) have been produced, both of whom have the characteristic trisomy 3q syndrome. Genetic marker studies showed that Pl and GM are not linked to the inversion break points. The Pl-GM linkage group has been excluded from much of chromosome 3 by deletion mapping and linkage analysis of this kindred.
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002900:Chromosomes, Human, 1-3; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011995:Recombination, Genetic; D013577:Syndrome; D014314:Trisomy
chemical_list: D005819:Genetic Markers