Trisomy 22: A clinical entity

Lillian Y.F. Hsu, Lawrence R. Shapiro, Melvin Gertner, Ernest Lieber, Kurt Hirschhorn

Research output: Contribution to journalArticlepeer-review

57 Scopus citations


The constellation of a characteristic facies, mental retardation, growth retardation,microcephaly, micrognathia, preauricular skin tags, appendages and sinuses, low-set and/or malformed ears, congenital heart disease, cleft palate, deformed lower extremities, finger-like malopposed thumbs, cubitus valgus, and abnormal and/or low-set nipples, in association with an extra small acrocentric chromosome, has been described in 3 patients. Each of the mothers had difficulty in conceiving; one was mosaic for trisomy 22. Autoradiographic studies done on 2 of the 3 patients showed the extra small acrocentric chromosome to be early replicating, suggesting that it is a number 22. On the basis of the phenotypic and cytogenetic findings in these and 10 similar patients previously reported, and in conjunction with the autoradiographic results, it is proposed that trisomy 22 is a distinct clinical entity.

Original languageEnglish
Pages (from-to)12-19
Number of pages8
JournalJournal of Pediatrics
Issue number1
StatePublished - Jul 1971
Externally publishedYes


Dive into the research topics of 'Trisomy 22: A clinical entity'. Together they form a unique fingerprint.

Cite this