De novo inverted interstitial ("mirror") duplication of chromosome 8(q13----q24.1) in a liveborn male.
We report on a newborn boy with a de novo inverted interstitial duplication of chromosome 8(q13----q24.1). This form of cytogenetic abnormality, in which a mirror image interstitial duplication has occurred, is exceedingly rare. Review of the literature and mechanisms to explain the origin of this type of chromosome aberration are presented. A review of the findings from individuals with partial dup(8q) demonstrate remarkable similarity to the infant we describe.
Donnenfeld
A E
AE
Southern Maine Genetic Service, Foundation for Blood Research, Scarborough.
Coyne
M D
MD
Beauregard
L J
LJ
D002869:Chromosome Aberrations / Q000235:genetics*; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8 / Q000648:ultrastructure*; D005147:Facial Bones / Q000002:abnormalities; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D006972:Hypertelorism; D007231:Infant, Newborn; D008297:Male; D012886:Skull / Q000002:abnormalities; D013771:Tetralogy of Fallot