The male infant presented illustrates the rather severe changes associated with partial trisomy of chromosome 16. Although trisomy 16 is frequently found among abortuses, this defect has not been documented in a live infant. A case reported by Hamerton (1971) indicated that trisomy of 16p may be responsible for the lethality. The balanced translocation does not seem to impart any abnormalities to its carriers. However, the meiotic pairing of the translocated chromosomes could permit discordant orientation and lead to an aneuploid gamete. In retrospect, this case illustrates the clinical rule that parents of partially trisomic infants should be studied for the presence of a balanced translocation.
|Original language||English (US)|
|Number of pages||8|
|Journal||BIRTH DEFECTS, ORIG.ART.SER.|
|State||Published - Dec 1 1975|
ASJC Scopus subject areas
- Developmental Biology