Interstitial deletion of the long arm of chromosome 7.
Chromosome studies were carried out in a girl because of psychomotor retardation and difficulty in swallowing. The girl was admitted to hospital for the first time when 25 months old. The most characteristic signs revealed by the physical examination were short distal ulnar phalanges, clitoral hypertrophy, and very thin outer ear cartilages. An interstitial deletion of the long arm of chromosome 7 was observed: 7q22::7q31. Laboratory investigations revealed a remarkably high levels of IgG, immunoglobulin, and an elevated value of serum FSH. No evidence of gene loci located at the deleted part of chromosome 7 were found.
D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D003680:Deglutition Disorders / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics*