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A Down syndrome female infant with partial trisomy of chromosome 21--abnormal nuchal translucency screening test.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2008

Strah D, Veble A, Rudolf G, Writzl K, Gersak K

Abstract excerpt

We describe a case of 24-year-old mother with abnormal nuchal translucency screening test. Standard G banding of chromosomes showed a normal prenatal karyotype. A Down syndrome female infant with partial duplication of the long arm of chromosome 21 was born resulted from a maternal pericentric inversion of region p1.1 to q22.1 of one of chromosome 21. As far as we know this case reports the first abnormal nuchal...

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PMID: 19239088

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