NEW CHROMOSOMAL AND MALFORMATION SYNDROMES

R. Schmickel, A. Poznanski, J. Himebaugh

Research output: Contribution to journalArticlepeer-review

17 Scopus citations

Abstract

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 languageEnglish (US)
Pages (from-to)229-236
Number of pages8
JournalBIRTH DEFECTS, ORIG.ART.SER.
Volume11
Issue number5
StatePublished - Dec 1 1975

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)

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