Three-Dimensional Ultrasonographic Findings of the Rare
Chromosomal Abnormality 48, XXYI + 18 :A Case Report
RAT ANA KOMWILAISAK, MD*, THAWALWONG RATANASIRI,MD*,
PATCHAREE KOMWILAISAK, MD**, SAMAN LUENGWATTANAWANIT,MSc***
Affiliation : * Division of Fetal Diagnosis and Therapy, Department of Obstetrics and Gynecology,
** Department of Pediatrics,
***Department of Pathology, Faculty of Medicine, Khon Kaen University, Khon Kaen 40002, Thailand.
AbstractThe 48, XXY I+ 18 is a very rare aneuploidy syndrome which combines the aberration in both
autosome and sex chromosome. The authors report a case diagnosed prenatally by lymphocyte culture
from fetal blood samples following cordocentesis, 2-dimensional (2DUS) and 3-dimensional ultrasono
graphy (3DUS). At 33 117 weeks gestation in an ultrasound examination by indication large for date;
single umbilical artery with absence of the left umbilical artery, polyhydramnios and fetal growth
restriction were demonstrated. The fetus presented with microcephaly, prominent occiput, low-set ears,
micrognathia, hypertelorism, small mouth, bilateral club hands with overlapping fingers, rocker-bottom
feet. Karyotyping from the cordocentesis led to the diagnosis of 48, XXYI + 18, which was confirmed
by the chromosomal analysis of the umbilical cord blood after the baby was born. This is the first
reported case of the very rare aneuploidy syndrome in the literature.
Keywords : Chromosomal Abnormality, Three-Dimensional Ultrasonography, 48, XXYI+ 18, Prenatal
Diagnosis
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