We report on a female infant with multiple congenital anomalies and severe developmental delay in association with a rare, terminal deletion of chromosome 14 [karyotype: mosaic. 46,XX/46,XX del (14)(q32.3) = 36%:64%].
- chromosomal aberration
- chromosome deletion
- human chromosome 14
- multiple congenital anomalies
ASJC Scopus subject areas