Ontology highlight
ABSTRACT:
SUBMITTER: Hoglund P
PROVIDER: S-EPMC1918292 | biostudies-other | 1994 Oct
REPOSITORIES: biostudies-other
Höglund P P Holmberg C C de la Chapelle A A Kere J J
American journal of human genetics 19941001 4
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 ha ...[more]