Prenatal diagnosis of monosomy 4p14→pter and trisomy 11q25→qter: clinical presentations and outcomes |
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Authors: | Hsiu-Huei Peng Tzu-Hao Wang An-Shine Chao Yao-Lung Chang Shuenn-Dyh Chang Yung-Kuei Soong |
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Affiliation: | 1. Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-ko Medical Center, Tao-Yuan, Taiwan;2. Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-ko Medical Center, Tao-Yuan, Taiwan Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Lin-ko Medical Center, Tao-Yuan, Taiwan |
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Abstract: | We present the case of a pregnant woman with low free β-HCG in maternal serum Down syndrome screening that led to prenatal diagnosis of a fetus with 46,XY,der(4)t(4;11)(p14; q25). This chromosomal aneuploidy resulted from unbalanced segregation of a paternal balanced translocation, t(4;11)(p14;q25). Prenatal ultrasound revealed intrauterine growth restriction, cleft lip and palate, a thick nuchal fold, a single umbilical artery, and pyelectasis. Array-based comparative genomic hybridization and short tandem repeat markers further located the exact breakpoint of translocation. The woman had her pregnancy terminated at 23 weeks of gestational age. The proband had general appearance of Wolf–Hirschhorn syndrome and some unique findings, including single umbilical artery, severe immunoglobulin deficiency, scalp defect, and underlying bony defect. Our case underscores the importance of fetal karyotyping when low maternal serum free β-HCG is found. It also adds information on the fetal presentations of monosomy 4p14→pter and trisomy 11q25→qter. Copyright © 2005 John Wiley & Sons, Ltd. |
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Keywords: | monosomy 4p trisomy 11q derivative chromosome prenatal diagnosis array-based comparative genomic hybridization |
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