Prenatal diagnosis of occipital encephalocele, mega-cisterna magna, mesomelic shortening, and clubfeet associated with pure tetrasomy 20p

National Yang Ming University, T’ai-pei, Taipei, Taiwan
Prenatal Diagnosis (Impact Factor: 3.27). 02/2003; 23(2):124-7. DOI: 10.1002/pd.543
Source: PubMed


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.

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