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Prenat Diagn. 1998 Dec;18(12):1323-7.

Prenatal diagnosis of de novo interstitial deletion of proximal 4q by maternal serum screening for Down syndrome.

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Department of Obstetrics and Gynaecology, Chang Gung Memorial Hospital, Kaohsiung, Taiwan, ROC.


Deletion of the proximal portion of chromosome 4q is apparently rare. To our knowledge, prenatal diagnosis of the interstitial deletion of 4q12-21.1 has never been reported. We present a prenatal case of 4q deletion in association with a positive Down syndrome screening test of an elevated maternal serum free beta human chorionic gonadotrophin (beta-hCG) level. The prenatal sonogram revealed intra-uterine growth retardation (IUGR) and shortening of the femur. Facial dysmorphism included micrognathia, depressed nasal bridge and low-set ears, these anomalies were evident at the postnatal examination. All of the anomalies were consistent with those described in proximal 4q deletion syndrome. Our case suggests that chromosome studies may be indicated for patients with high maternal serum free beta-hCG and IUGR in the early second trimester.

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