Prenatal diagnosis of 5p‐

Karen David, Sara Kaffe, Lotte Strauss, Lillian Y.F. Hsu, Andrea Serotkin, Kurt Hirschhorn

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


With the combination of the various banding techniques (G, Q, and R), a small deletion of the short arm of a No. 5 chromosome was detected prenatally in the pregnancy of a 39–year‐old woman. The deletion appeared to be either interstitial in nature, involving part of p13 and p14, or the result of a translocation with deletion of pl3→pter. Both parents were found to have a normal chromosome constitution with normal banding patterns. Thus, this deletion was a de novo event. Repeat amniotic fluid cell chromosome analysis at the time of elective abortion, and postmortem examination of the fetus confirmed the prenatal cytogenetic diagnosis. We wish to emphasize that precise identification of a small deletion, as in this case, requires a combination of the various banding techniques.

Original languageEnglish
Pages (from-to)224-228
Number of pages5
JournalClinical Genetics
Issue number2
StatePublished - Feb 1978


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