Prenatal diagnosis of complete sole trisomy 1q |
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Authors: | Mark J Pettenati Margaret Berry Vandana Shashi J Hartley Bowen Margaret Harper |
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Institution: | 1. Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA;2. Department of Pathology and Laboratory Medicine, Grace Hospital, Morganton, NC 28655, USA;3. Department of Obstetrics and Gynecology, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA |
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Abstract: | The prenatal diagnosis of a complete trisomy of the long arm of chromosome 1 is reported. Major ultrasound findings included: nuchal thickening, bi-temporal narrowing, a single choroid plexus cyst, andmild ventriculomegaly. There was a mass in the chest and abdomen, pleural effusion, ascites and a hyperechoic bowel. Skin edema was present. The fetus died at 26 weeks' gestation. A literature review is presented of 17 de novo and two inherited cases with only trisomy 1q. Of note is the fact that 3/5 prenatally detected 1q trisomies have teratomas. A review of the literature reveals a dismal outcome fortrisomy 1q cases if the duplication involves bands 1q25→q32. Copyright © 2001 John Wiley & Sons, Ltd. |
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Keywords: | trisomy chromosome 1 prenatal diagnosis |
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