Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: Prenatal diagnosis and aCGH characterization using uncultured amniocytes |
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| Authors: | Chih-Ping Chen Ming-Chao Huang Yi-Yung Chen Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Dai-Dyi Town Wayseen Wang |
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| Affiliation: | 1. Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan;2. Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan;3. Department of Medicine, Mackay Medical College, New Taipei City, 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 Gene Biodesign Co. Ltd, Taipei, Taiwan;i Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan;j Department of Bioengineering, Tatung University, Taipei, Taiwan |
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| Abstract: | We present prenatal diagnosis of a de novo distal deletion involving 5p(5p15.1 → pter) using uncultured amniocytes in a pregnancy with cerebellar hypoplasia, hypospadias and facial dysmorphisms in the fetus. We discuss the genotype–phenotype correlation and the consequence of haploinsufficiency of CTNND2, SEMA5A, TERT, SRD5A1 and TPPP. We speculate that haploinsufficiency of SRD5A1 and TPPP may be responsible for hypospadias and cerebellar hypoplasia, respectively, in this case. |
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| Keywords: | aCGH, array comparative genomic hybridization OMIM, Online Mendelian Inheritance in Man QF-PCR, quantitative fluorescent polymerase chain reaction CVS, chorionic villus sampling FISH, fluorescence in situ hybridization CNS, central nervous system del, deletion |
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