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. 1993 Mar;91(3):1123–1128. doi: 10.1172/JCI116271

Related individuals with different androgen receptor gene deletions.

H E MacLean 1, S Chu 1, G L Warne 1, J D Zajac 1
PMCID: PMC288068  PMID: 8450042

Abstract

We have identified different members of one family affected by androgen insensitivity syndrome who have deletions of different exons of the X-linked androgen receptor (AR) gene. Two affected (XY) siblings have a deletion of exon E of the AR gene and their affected (XY) aunt has a normal exon E, but a deletion of exons F and G of the same gene. The mother and maternal grandmother of the children both carry the exon E deletion, but not the exon F, G deletion. Both deletions are 5 kb in length and have one breakpoint within a 200-bp region in intron 5; however, they extend in opposite directions. The probability that these two different deletions have arisen at random is extremely low, but the cause of this intriguing phenomenon remains to be found.

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