Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring

Stuart K. Shapira*, Avi Orr-Urtreger, Sarantis Gagos, Lisa G. Shaffer

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


We report on a case of constitutional mosaicism for a large pericentric inversion of chromosome 9 in a man whose daughter had recombinant aneusomy resulting in partial 9q duplication and partial 9p deletion. At age 6 months, the girl was evaluated because of dysmorphic congenital animal features and developmental delay. Chromosomal analysis on this infant showed a derivative chromosome 9 which was later determined to be a recombinant chromosome with trisomy of 9q34.1→qter and monosomy of pter→9p24. Chromosomal analysis in her father showed the presence of two cell lines; 75% of lymphocytes had a 46,XY pattern, and 25% had a 46,XY,inv(9)(p24q34.1) karyotype. The infant's physical findings represent a composite of the reported cases of both trisomy 9q34.1→qter and monosomy pter→9p24. The infant's father was phenotypically and cognitively normal. This case broadens the spectrum of reported cases of mosaicism for an autosomal structural rearrangement generating unbalanced gametes, and further supports the tenet that constitutional mosaicism has clinical relevance for genetic counseling.

Original languageEnglish
Pages (from-to)360-364
Number of pages5
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - 14 Apr 1997
Externally publishedYes


  • cerebral atrophy
  • constitutional mosaicism
  • human chromosome 9
  • pericentric inversion
  • psychomotor retardation
  • recombinant aneusomy


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