Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia,arthrogryposis, scoliosis and hyperextensible joints |
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| Authors: | Chih-Ping Chen Yao-Lung Chang Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Wen-Lin Chen Li-Feng Chen Wayseen Wang |
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| Affiliation: | 1. Department of Medicine, Mackay Medical College, New Taipei City, Taiwan;2. Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan;3. Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan;4. Department of Biotechnology, Asia University, Taichung, Taiwan;5. School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan;6. Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan;g Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan;h Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Chang Gung University, Tao-Yuan, Taiwan;i Gene Biodesign Co. Ltd, Taipei, Taiwan;j Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan;k Department of Bioengineering, Tatung University, Taipei, Taiwan |
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| Abstract: | We present rapid aneuploidy diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) 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. |
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| Keywords: | 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 der, derivative MLPA, multiplex ligation-dependent probe amplification |
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