33 research outputs found
Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents
Get PDFWe present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r(21)/i(21p13) mosaicism and rob(14;21)]. Molecular studies using polymorphic markers have shown that these two aberrations had a common maternal origin. However, the parents were cytogenetically and phenotypically normal. This unusual association has not been reported and is considered to be a unique case that should be addressed
A female infant with a 46,XX/48,XY,+8,+10 karyotype in prenatal diagnosis: a ‘vanishing twin’ phenomenon?
No full textA fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth
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Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation
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