title: Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.
abstract: Uniparental disomy for maternal chromosome 7 has been described in three patients with recessive disorders. Short stature in each of these patients has been explained by the effect of imprinting of growth-related genes on maternal chromosome 7. Alternatively, although less likely, all these patients may be homozygous for a rare recessive mutation. Here we report both paternal isodisomy for chromosome 7 and normal growth in a patient with a recessive disorder, congenital chloride diarrhea. She had inherited only paternal alleles at 10 loci and was homozygous for another 10 chromosome 7 loci studied. Her physical status and laboratory tests were normal except for a mild high-frequency sensorineural hearing loss. As the patient has normal stature, it is likely that the paternal chromosome 7 lacks the suggested maternal imprinting effect on growth. Paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Finland.
authors.forename: P
authors.initials: P
authors.lastname: Höglund
authors.forename: C
authors.initials: C
authors.lastname: Holmberg
authors.forename: A
authors.initials: A
authors.lastname: de la Chapelle
authors.forename: J
authors.initials: J
authors.lastname: Kere
mesh_terms: D000328:Adult; D002712:Chlorides / Q000378:metabolism*; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D004247:DNA / Q000097:blood; D003968:Diarrhea, Infantile / Q000151:congenital / Q000235:genetics*; D005220:Fathers; D005260:Female; D005808:Genes, Recessive; D005819:Genetic Markers; D006128:Growth; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic
chemical_list: D002712:Chlorides; D005819:Genetic Markers; D004247:DNA