Malformation syndrome of duplication 12q24.1- >qter

A. R. Melnyk, L. Weiss, D. L. Van Dyke, P. Jarvi

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29 Scopus citations


While duplication and deletion of the short arm of chromosome 12 cause well-recognized syndromes, duplication of the long arm of chromosome 12 is rarely observed. The authors are reporting a duplication of chromosome 12 distal to band q24.1 in a five-month-old child. His chromosome constitution is 46,XY,-4,+der(4),t(4:12)(p16;24.1)mat. The balanced translocation is also carried by his maternal grandmother and two of the mother's brothers. The malformation syndrome consisted of unusual facial appearance and anomalies of the musculoskeletal, cardiovascular, genitourinary, and central nervous systems. Four previously reported patients had similar break points on chromosome 12 with similar malformations; therefore, phenotype-karyotype correlation suggests a definitive malformation syndrome associated with duplication of chromosome region 12q24.1→qter.

Original languageEnglish (US)
Pages (from-to)357-365
Number of pages9
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - 1981
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)


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