Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5906769 | Gene | 2013 | 6 Pages |
We present rapid aneuploidy diagnosis of partial trisomy 3q (3q27.3âqter) and partial monosomy 14q (14q31.3âqter) of paternal origin by aCGH using uncultured amniocytes in a fetus with hypotonia, scoliosis, arthrogryposis, hyperextensible joints, facial dysmorphism, ventricular septal defect, pulmonary stenosis, clenched hands, clubfoot, scalp edema and right hydronephrosis. We discuss the genotype-phenotype correlation of 3q duplication syndrome and terminal 14q deletion syndrome. We demonstrate that fetuses with a paternal-origin deletion of 14q involving the 14q32.2 imprinted region may prenatally present the upd(14)mat-like phenotype such as hypotonia, scoliosis, arthrogryposis and hyperextensible joints.
⺠We present concomitant dup(3)(q27.3âqter) and del(14)(q31.3âqter). ⺠Features include arthrogryposis, scoliosis and hyperextensible joints. ⺠We discuss the genotype-phenotype correlation.