The 9p‐ deletion syndrome A patient with a 45,XX,‐9,‐15, + t(9/15) constitution due to maternal 3:l meiotic disjunction

Francesca Bergamo, F Crosato, D. Francesconi, Francesco Pasquali, Orsetta Zuffardi

Clinical Genetics · 1977 · 14 citations · 6 references

Concepts

Abstract

Deletion of the short arm of chromosome 9, derived from a 3:1 meiotic segregation in the mother, carrier of a balanced 9/15 translocation, was found in a 3-year-old female. Severe psychomotor retardation with delayed speech, brachicephaly, flat occiput hypertelorism and long upper lip were the main signs in the girl.

References

6