title: A rare chromosome 3 imbalance and its clinical implications.
abstract: The duplication of chromosome 3q is a rare disorder with varying chromosomal breakpoints and consequently symptoms. Even rarer is the unbalanced outcome from a parental inv(3) resulting in duplicated 3q and a deletion of 3p. Molecular karyotyping should aid in precisely determining the length and breakpoints of the 3q+/3p- so as to better understand a child's future development and needs. We report a case of an infant male with a 57.5 Mb duplication from 3q23-qter. This patient also has an accompanying 1.7 Mb deletion of 3p26.3. The duplicated segment in this patient encompasses the known critical region of 3q26.3-q27, which is implicated in the previously reported 3q dup syndrome; however, the accompanying 3p26.3 deletion is smaller than the previously reported cases. The clinical phenotype of this patient relates to previously reported cases of 3q+ that may suggest that the accompanying 1.7 Mb heterozygous deletion is not clinically relevant. Taken together, our data has refined the location and extent of the chromosome 3 imbalance, which will aid in better understanding the molecular underpinning of the 3q syndrome.
authors.affiliation: Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.
authors.forename: Karen
authors.initials: K
authors.lastname: Sims
authors.forename: Roberto L P
authors.initials: RL
authors.lastname: Mazzaschi
authors.forename: Emilie
authors.initials: E
authors.lastname: Payne
authors.forename: Ian
authors.initials: I
authors.lastname: Hayes
authors.forename: Donald R
authors.initials: DR
authors.lastname: Love
authors.forename: Alice M
authors.initials: AM
authors.lastname: George