Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy

We report a patient who had a similar interstitial deletion of chromosome 10 that was, however, associated with a significantly milder phenotype. The patient, an 8-year-old girl, was born in the 36th gestational week to nonconsanguineous parents with a family history negative for JPI. Birth weight was 2,850 g (75th percentile), length was 50 cm (75th–90th percentile), and head circumference was 34 cm (50th–75th percentile). Perinatality and early development were normal. Mild developmental delay was noticed during the 2nd year of life.