Prenatal diagnosis of occipital encephalocele,mega-cisterna magna,mesomelic shortening,and clubfeet associated with pure tetrasomy 20p |
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| Authors: | Yi-Cheng Wu Jye Siung Fang Kuei-Fang Lee Judy Estipona Man-Li Yang Chiou-Chung Yuan |
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| Institution: | 1. Department of Obstetrics and Gynecology, Veterans General Hospital—Taipei, Taipei, Taiwan and National Yang-Ming University, Taipei, Taiwan;2. Center of the Medical Genetics, Tzu-Chi Hospital, Hualien, Taiwan;3. Department of Obstetrics and Gynecology, Mennonite Christian Hospital, Hualien, Taiwan |
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| Abstract: | We present the first case of a fetus with pure tetrasomy 20p proven by cord-blood sampling at 24 weeks of gestation. This case was diagnosed in utero with multiple congenital anomalies including occipital encephalocele, mega-cisterna magna, mesomelic shortening, and clubfeet. An analysis of GTG-banded chromosomes of 20 metaphase cells was performed. Female karyotype 47,XX, +i(20)(p10)] was revealed in all cells. Pure tetrasomy 20p was confirmed using fluorescent in situ hybridization (FISH) with a telomere probe for chromosome 20p in all seven metaphase cells. The pregnancy was terminated because of associated multiple anomalies and severe oligohydramnios. The postmortem examination confirmed the prenatal diagnosis. Copyright © 2003 John Wiley & Sons, Ltd. |
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| Keywords: | tetrasomy 20p pure tetrasomy 20p isochromosome 20p prenatal diagnosis |
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