Monozygotic dichorionic twins heterokaryotypic for duplication chromosome 2q13-q23.3.
We present an evaluation of the diagnosis, management and outcome of a pair of heterokaryotypic monozygotic dichorionic twins. The heterokaryotype was an incidental finding from an amniocentesis performed for prenatal diagnosis of beta-thalassaemia major in a pair of dichorionic twins. Monozygocity was revealed by QF-PCR showing identical short tandem repeat markers on chromosomes 21, 18, 13, X and Y. The twins were heterokaryotypic for duplication chromosome 2q13-q23.3, as shown by array comparative genomic hybridization. Selective foeticide was performed. This case demonstrates that heterokaryotypic monozygotic dichorionic twins are a genetic possibility that does occur.
Department of Obstetrics and Gynaecology, Kwong Wah Hospital, Hong Kong, SAR, China. leungwc65@hotmail.com
W C
WC
Leung
H
H
Choi
W L
WL
Lau
L K
LK
Ng
E T
ET
Lau
F M
FM
Lo
K W
KW
Choy
T K
TK
Lau
M H Y
MH
Tang
R
R
Chin
D000328:Adult; D000649:Amniocentesis; D002889:Chromosomes, Human, Pair 2; D055028:Comparative Genomic Hybridization; D005260:Female; D020440:Gene Duplication; D005817:Genetic Counseling; D005820:Genetic Testing; D005865:Gestational Age; D006801:Humans; D033162:Incidental Findings; D007621:Karyotyping; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D018607:Pregnancy Reduction, Multifetal; D011296:Prenatal Diagnosis / Q000379:methods*; D014430:Twins, Monozygotic / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics