共查询到12条相似文献,搜索用时 0 毫秒
1.
Chih-Ping Chen Tung-Yao Chang Wan-Yuo Guo Pei-Chen Wu Liang-Kai Wang Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Yu-Ting Chen Li-Feng Chen Wayseen Wang 《Gene》2013
We report a molecular cytogenetic characterization of 17p13.3 deletion syndrome by array comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH) and quantitative polymerase chain reaction (qPCR) in a fetus with lissencephaly, corpus callosum dysgenesis, ventriculomegaly, microcephaly, intrauterine growth restriction (IUGR), polyhydramnios and single umbilical artery. aCGH analysis revealed a 3.17-Mb deletion at 17p13.3, or arr [hg19] 17p13.3 (0–3,165,530)×1. The qPCR assays revealed a maternal origin of the deletion. Metaphase FISH analysis detected the absence of the LIS1 probe signal on the aberrant chromosome 17. The karyotype was 46,XX,del(17)(p13.3). We review the literature of chromosome 17p13.3 deletion syndrome with prenatal findings and diagnosis, and suggest that prenatal ultrasound detection of central nervous system anomalies such as lissencephaly, corpus callosum dysgenesis/agenesis, ventriculomegaly and microcephaly associated with IUGR, polyhydramnios, congenital heart defects, abdominal wall defects and renal abnormalities should include a differential diagnosis of chromosome 17p13.3 deletion syndrome. 相似文献
2.
Chih-Ping Chen Jian-Pei Huang Yi-Yung Chen Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Chen-Wen Pan Wayseen Wang 《Gene》2013
We present prenatal diagnosis of a de novo distal 18p deletion involving 14.06 Mb at 18p11.32–p11.21 by aCGH using uncultured amniocytes in a pregnancy with fetal holoprosencephaly and premaxillary agenesis. QF-PCR analysis showed that distal 18p deletion was from maternal origin. Metaphase FISH analysis confirmed haploinsufficiency of TGIF. We discuss the functions of the genes that are deleted within this region. The present case shows the usefulness of applying aCGH on uncultured amniocytes for rapid aneuploidy diagnosis in cases with prenatally detected fetal structural abnormalities. 相似文献
3.
Chih-Ping Chen Ming-Chao Huang Yi-Yung Chen Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Dai-Dyi Town Wayseen Wang 《Gene》2013
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. 相似文献
4.
We present prenatal diagnosis of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 22 associated with cat eye syndrome (CES) using cultured amniocytes in a pregnancy with fetal microcephaly, intrauterine growth restriction, left renal hypoplasia, total anomalous pulmonary venous return with dominant right heart and right ear deformity. The sSMC was bisatellited and dicentric, and was characterized by multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH). The SALSA MLPA P250-B1 DiGeorge Probemix showed duplication of gene dosage in the CES region. aCGH showed a 1.26-Mb duplication at 22q11.1–q11.21 encompassing CECR1–CECR7. The sSMC was likely inv dup(22) (q11.21). Prenatal diagnosis of an sSMC(22) at amniocentesis should alert CES. MLPA, aCGH and fetal ultrasound are useful for rapid diagnosis of CES in case of prenatally detected sSMC(22). 相似文献
5.
Microduplications of 22q11.2 have been recently characterized as a new genomic duplication syndrome showing an extremely variable phenotype ranging from normal or mild learning disability to multiple congenital defects and sharing some overlapping features with DiGeorge/Velocardiofacial syndrome (DGS/VCFS). We report on the prenatal diagnosis of a 22q11.2 microduplication in a fetus with normal development that was referred for chromosomal analysis at 17 weeks of gestation because of advanced maternal age. Pregnancy was the result of an IVF-ICSI attempt after 4 years of infertility, mainly due to severe oligoasthenoteratospermia of the father. Amniocentesis was undertaken and cytogenetic analysis revealed an apparently normal male karyotype. Multiple Ligation-dependent Probe Amplification (MLPA) revealed a microduplication in the 22q11.2 chromosome region. Parental analysis showed that the 22q11.2 microduplication has been inherited from the otherwise healthy mother. Analysis with high resolution array-CGH showed that the size of the microduplication is 2.5 Mb and revealed the genes that are duplicated, including the TBX1 gene. The parents elected to continue with the pregnancy and the infant is now five months old and shows normal development. 相似文献
6.
Chih-Ping Chen Chen-Ju Lin Tung-Yao Chang Schu-Rern Chern Peih-Shan Wu Yu-Ting Chen Jun-Wei Su Chen-Chi Lee Li-Feng Chen Wayseen Wang 《Gene》2013
We present rapid aneuploidy diagnosis of ring chromosome 2 with 2p25.3 and 2q37.3 microdeletions by aCGH using uncultured amniocytes in a fetus with IUGR, microcephaly, lissencephaly and ambiguous external genitalia. Our case adds lissencephaly to the list of CNS abnormalities in ring chromosome 2 with 2p25.3 and 2q37.3 microdeletions. We discuss the consequence of haploinsufficiency of HDAC4, KIF1A, PASK, HDLBP, FRAP2 and D2HGDH on 2q37.3, and haploinsufficiency of MYT1L, SNTG2 and TPO on 2p25.3 in this case. 相似文献
7.
Chih-Ping Chen Shing-Jyh Chang Schu-Rern Chern Peih-Shan Wu Yu-Ting Chen Jun-Wei Su Wen-Lin Chen Wayseen Wang 《Gene》2013
We present prenatal diagnosis and molecular cytogenetic characterization of de novo interstitial deletion of 7q (7q22.1 → q31.1) by aCGH, FISH and QF-PCR in a fetus with an abnormal maternal serum screening result and ultrasound findings of facial cleft and hypogenitalism. We discuss the genotype–phenotype correlation and the consequence of haploinsufficiency of ZKSCAN5, ARPC1A, CYP3A43, RELN, LAMB1, IMMP2L and DOCK4 in this case. 相似文献
8.
Luca Bartolini Stefano Sartori Elisabetta Lenzini Chiara Rigon Elisa Cainelli Cristina Agrati Irene Toldo Marta Donà Eva Trevisson 《Gene》2013
We report on a boy with speech delay, mental retardation, motor clumsiness, hyperactivity, dysmorphic facial features, brachytelephalangy and short stature. Electrocardiogram, echocardiography, renal ultrasound, electroencephalogram, fundoscopic exam and auditory brainstem responses were all normal. Brain magnetic resonance imaging showed a left temporal arachnoid cyst and a small pineal gland cyst. 相似文献
9.
Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis,fetal pathology and review of the literature 下载免费PDF全文
Stavros Sifakis Makarios Eleftheriades Dimitra Kappou Roberta Murru Anastasia Konstantinidou Sandro Orru Monika Ziegler Thomas Liehr Emmanouil Manolakos Ioannis Papoulidis 《Birth defects research. Part A, Clinical and molecular teratology》2014,100(4):284-293
10.
Chih-Ping Chen Ming Chen Yi-Ning Su Jian-Pei Huang Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Shun-Ping Chang Yu-Ting Chen Chen-Chi Lee Li-Feng Chen Chen-Wen Pan Wayseen Wang 《Gene》2013
We present prenatal diagnosis and molecular cytogenetic analysis of mosaic small supernumerary marker chromosome 1 [sSMC(1)]. We review the literature of sSMC(1) at amniocentesis and chromosome 1p21.1-p12 duplication syndrome. We discuss the genotype–phenotype correlation of the involved genes of ALX3, RBM15, NTNG1, SLC25A24, GPSM2, TBX15 and NOTCH2 in this case. 相似文献
11.
Chih-Ping Chen Po-Jen Cheng Shuenn-Dyh Chang Yi-Xuan Lee Jin-Chung Shih Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Yu-Ting Chen Adam Hwa-Ming Hsieh Teresa Hsiao-Tien Chen Li-Feng Chen Wayseen Wang 《Gene》2013
We present perinatal findings and molecular cytogenetic characterization of a prenatally detected sacrococcygeal teratoma associated with mosaic r(21). This is the first report of mosaic r(21) presenting with a fetal sacrococcygeal teratoma. We discuss cytogenetic abnormalities associated with fetal sacrococcygeal teratomas. 相似文献
12.
Maggie S. Brett Ivy S.L. Ng Eileen C.P. Lim Min Hwee Yong Zhihui Li Angeline Lai Ene-Choo Tan 《Gene》2013
We describe a boy with a de novo deletion of 15.67 Mb spanning 3q22.1q24. He has bilateral micropthalmia, ptosis, cleft palate, global developmental delay and brain, skeletal and cardiac abnormalities. In addition, he has bilateral inguinal hernia and his right kidney is absent. We compare his phenotype with seven other patients with overlapping and molecularly defined interstitial 3q deletions. This patient has some phenotypic features that are not shared by the other patients. More cases with smaller deletions defined by high resolution aCGH will enable better genotype–phenotype correlations and prioritizing of candidate genes for the identification of pathways and disease mechanisms. 相似文献