Prenatal diagnosis of a familial interchromosomal insertion of Y chromosome heterochromatin

Patricia Ashton-Prolla, Irina F. Gershin, Arvind Babu, Richard L. Neu, Randi E. Zinberg, Judith P. Willner, Robert J. Desnick, Philip D. Cotter

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7 Scopus citations


An apparently unbalanced karyotype containing an abnormal chromosome 11 was identified in a 16-week female fetus by analysis of cultured amniocytes. Fluorescence in situ hybridization (FISH) with a chromosome 11 paint identified the presence of an insertion in band 11q24. Parental karyotyping documented an unbalanced karyotype with the same der(11) chromosome in the phenotypically normal father. CBG-banding and FISH identified the insertion to be Yq12 heterochromatin: 46,XY, der(11)ins(11;Y) (q24;q12q12).ish der(11) (wcp11+,DYZ1+). The same der(11) chromosome was also found in the phenotypically normal paternal grandmother, demonstrating this additional Y chromosomal material did not affect normal female sexual development or fertility. The parents elected to continue the pregnancy and a normal girl was born at term, further confirming that this rare familial variant has no clinical significance. This case illustrates the importance of family studies, appropriate banding, and FISH analyses to accurately characterize apparent chromosomal abnormalities.

Original languageEnglish
Pages (from-to)470-473
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - 31 Dec 1997


  • Chromosome 11
  • Heterochromatin
  • Insertion
  • Prenatal diagnosis
  • Y chromosome


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