Prenatal diagnosis of a familial complex chromosomal rearrangement involving chromosomes 5, 10, 16 and 18.
We report one case of a familial complex chromosomal rearrangement (CCR) involving four different chromosomes 5, 10, 16 and 18. The CCR was detected prenatally at 20 weeks' gestation because of advanced maternal age and history of recurrent miscarriages. Cytogenetic analysis of cultured amniotic fluid cells with GTG banding showed a 46,XX,t(5;16;10;18)(q13;q22;q11.2;q21) karyotype. Parental cytogenetic study revealed that the mother has the same CCR. RBG banding, high resolution banding and fluorescence in situ hybridization (FISH) were used to characterize further and confirm the conventional banding data. No physical abnormalities were shown in the targeted fetal ultrasonography examination. The parents decided to continue the pregnancy. The child is now 2 years old and has neither congenital anomalies nor evidence of delayed psychomotor development. The fetal targeted ultrasound and FISH analysis helped us reassure fetal status.
Lee
M H
MH
Laboratory of Medical Genetics, Samsung Cheil Hospital, Seoul, Korea. bihuang@genzyme.com
Park
S Y
SY
Kim
Y M
YM
Kim
J M
JM
Han
J Y
JY
Kim
M Y
MY
Ryu
H M
HM
D000026:Abortion, Habitual / Q000235:genetics; D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002879:Chromosomes, Human, Pair 10; D002885:Chromosomes, Human, Pair 16; D002887:Chromosomes, Human, Pair 18; D002895:Chromosomes, Human, Pair 5; D005260:Female; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008423:Maternal Age; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic; D016216:Ultrasonography, Prenatal