Prenatal diagnosis of partial trisomy 3q (3q27.3¡úqter) and partial monosomy 14q (14q31.3¡úqter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints

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• 作者：Chih-Ping Chen^a ; ^b ; ^c ; ^d ; ^e ; ^f ; ^g ; ^{cpc_mmh@yahoo.com} ; Yao-Lung Chang^h ; Schu-Rern Chern^c ; Peih-Shan Wuⁱ ; Jun-Wei Su^b ; ^j ; Wen-Lin Chen^b ; Li-Feng Chen^b ; Wayseen Wang^c ; ^k
• 关键词：Dup ; duplication ; del ; deletion ; pat ; paternal ; mat ; maternal ; UPD ; uniparental disomy ; ACGH ; array comparative genomic hybridization ; FISH ; fluorescence in situ hybridization ; QF-PCR ; quantitative fluorescent polymerase chain reaction ; t ; translocation
• 刊名：Gene
• 出版年：2013
• 出版时间：1 March, 2013
• 年：2013
• 卷：516
• 期：1
• 页码：132-137
• 全文大小：998 K

文摘

We present rapid aneuploidy diagnosis of partial trisomy 3q (3q27.3¡úqter) and partial monosomy 14q (14q31.3¡úqter) 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.