Inv dup del(10q): identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements.
OBJECTIVE
To present molecular cytogenetic characterization of an inverted duplication with terminal deletion of 10q, or inv dup del(10q) in a fetus with two concurrent chromosomal rearrangements.


RESULTS
A 39-year-old woman underwent amniocentesis at 20 weeks of gestation because of advanced maternal age. Amniocentesis revealed a der(10) with additional material at the end of the long arm of chromosome 10, a der(9) and a der(22). Parental karyotypes were normal. A de novo unbalanced complex chromosomal rearrangement (CCR) was diagnosed by conventional cytogenetics, but the breakpoints could not be defined. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism. Postnatal analysis of fetal tissues using spectral karyotyping, fluorescence in situ hybridization, multicolor banding, and array-comparative genomic hybridization identified an inv dup del(10q) with an inverted duplication of 10q25.1→q26.2 and a terminal deletion of 10q26.2→qter, and a balanced reciprocal translocation between chromosomes 9 and 22. Microsatellite analysis determined a paternal origin of the inv dup del(10q). The karyotype of the fetus was 46,XX,t(9;22)(p23;q13),der(10)del(10)(q26.2) dup(10)(q26.2q25.1)dn.


CONCLUSIONS
A de novo inv dup del(10q) can be associated with a concurrent de novo balanced reciprocal translocation and should be differentiated from an unbalanced CCR by molecular cytogenetic techniques.
Department of Medicine, Mackay Medical College, New Taipei City, Taiwan. cpc_mmh@yahoo.com
Chih-Ping
CP
Chen
Ming
M
Chen
Yi-Ning
YN
Su
Jian-Pei
JP
Huang
Gwo-Chin
GC
Ma
Shun-Ping
SP
Chang
Schu-Rern
SR
Chern
Yu-Ting
YT
Chen
Jun-Wei
JW
Su
Chen-Chi
CC
Lee
Dai-Dyi
DD
Town
Wayseen
W
Wang
D000028:Abortion, Induced; D000649:Amniocentesis; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D007446:Chromosome Inversion; D002879:Chromosomes, Human, Pair 10; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D018895:Microsatellite Repeats; D011247:Pregnancy; D014178:Translocation, Genetic