کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5906769 | 1159984 | 2013 | 6 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Short CommunicationPrenatal diagnosis of partial trisomy 3q (3q27.3âqter) and partial monosomy 14q (14q31.3âqter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints Short CommunicationPrenatal diagnosis of partial trisomy 3q (3q27.3âqter) and partial monosomy 14q (14q31.3âqter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints](/preview/png/5906769.png)
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.
Journal: Gene - Volume 516, Issue 1, 1 March 2013, Pages 132-137