Trisomy 5p. Case report

Trisomy 5p, mostly caused by unbalanced translocation of the short arm of chromosome 5, is a rare abnormality with characteristic clinical features. We report on a male infant who showed signs of dysmorphism after birth. His later clinical history was dominated by pulmonary symptoms which finally caused death. As reasons have to be discussed the severe tracheo- and laryngomalacia with microlarynx, the gastroesophageal reflux with high aspiration risk, as well as the in literature suspected hypogammaglobulinemia A. However, the low level of secretory IgA probably only has clinical relevance for repeated pulmonary infections if it is combined with an IgG subclass deficiency.