Prenatal diagnosis of monosomy 4p14-->pter and trisomy 11q25-->qter: clinical presentations and outcomes.
We present the case of a pregnant woman with low free beta-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 beta-HCG is found. It also adds information on the fetal presentations of monosomy 4p14-->pter and trisomy 11q25-->qter.
Peng
Hsiu-Huei
HH
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-ko Medical Center, Kwei-Shan, Tao-Yuan, Taiwan.
Wang
Tzu-Hao
TH
Chao
An-Shine
AS
Chang
Yao-Lung
YL
Chang
Shuenn-Dyh
SD
Soong
Yung-Kuei
YK
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D000328:Adult; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood; D002880:Chromosomes, Human, Pair 11; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005312:Fetal Blood / Q000276:immunology; D005865:Gestational Age; D006801:Humans; D017099:IgG Deficiency / Q000097:blood / Q000175:diagnosis; D007075:Immunoglobulin M / Q000172:deficiency; D007621:Karyotyping; D008297:Male; D009006:Monosomy / Q000175:diagnosis*; D009693:Nucleic Acid Hybridization; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000175:diagnosis*
D018997:Chorionic Gonadotropin, beta Subunit, Human; D007075:Immunoglobulin M