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排序方式: 共有10000条查询结果,搜索用时 23 毫秒
991.
Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement 下载免费PDF全文
992.
Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia 下载免费PDF全文
993.
Microarray and FISH‐based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome 下载免费PDF全文
Kenji Shimizu Keiko Wakui Tomoki Kosho Nobuhiko Okamoto Seiji Mizuno Kazuya Itomi Shigeto Hattori Kimio Nishio Osamu Samura Yoshiyuki Kobayashi Yuko Kako Takashi Arai Tsutomu Oh‐ishi Hiroshi Kawame Yoko Narumi Hirofumi Ohashi Yoshimitsu Fukushima 《American journal of medical genetics. Part A》2014,164(3):597-609
994.
Cytogenomic and phenotypic analysis in low‐level monosomy 7 mosaicism with non‐supernumerary ring chromosome 7 下载免费PDF全文
Consuelo Salas‐Labadía David E. Cervantes‐Barragán Roberto Cruz‐Alcívar Robert D. Daber Laura K. Conlin Laura D. Leonard Nancy B. Spinner Carola Durán‐McKinster David J. Dávila‐Ortíz de Montellano Victoria Del Castillo‐Ruiz Patricia Pérez‐Vera 《American journal of medical genetics. Part A》2014,164(7):1765-1769
995.
996.
Interstitial 10p11.23–p12.1 microdeletions associated with developmental delay,craniofacial abnormalities,and cryptorchidism 下载免费PDF全文
997.
Genotype–phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion
《European journal of medical genetics》2014,57(7):334-338
Microdeletion 12p13.33, though very rare, is an emerging condition associated with variable phenotype including a specific speech delay sound disorder, labelled childhood apraxia of speech (CAS), intellectual disability (ID) and neurobehavioral problems.Here we report a de novo 2.3 Mb interstitial 12p13.33-p13.32 deletion in a 5 year-old child with mild ID, speech delay, microcephaly, muscular hypotonia, and joint laxity. In contrast to previously reported patients with 12p13.33 monosomy, our patient's interstitial deletion spans the 12p13.33-12p13.32 region with the distal breakpoint within intron 12 of CACNA1C.Phenotype–genotype comparison between our case, previously reported patients, and subjects with 12p13.33 deletions led us to propose that haploinsufficiency of CACNA1C may influence the variability of the patients' phenotype, since the gene resulted disrupted or entirely deleted in the majority of reported patients. In addition, phenotypic features such as microcephaly, muscular hypotonia, and joint laxity are mainly present in patients with monosomy of 12p13.33 extending to the 12p13.32 portion. A common region of ∼300 kb, harbouring EFCAB4B and PARP11, is deleted in patients with microcephaly while a second region of ∼700 kb, including TSPAN9 and PMTR8, could be associated with muscle hypotonia and joint laxity. These data reinforce the hypothesis that multiple haploinsufficient genes and age-dependent observation may concur to generate the variable phenotype associated with 12p13.33 deletion. 相似文献
998.
《European journal of medical genetics》2014,57(5):185-194
The duplication of the short arm (p) of chromosome 12 is a rare chromosomal abnormality, and most reported cases result from malsegregation of a balanced parental translocation associated with other chromosomal imbalances. Of the reported cases, only 15 involve a pure and complete 12p duplication and only 10 involve a pure and partial duplication overlapping the 12p12.3p13.1 region, including a single instance of an inherited duplication in two related individuals. Here, we report three new patients with a pure 12p duplication, detected by conventional cytogenetic studies and characterized by array-comparative genomic hybridization (array-CGH) and fluorescence in situ hybridization (FISH). The first patient was a child carrying a de novo inverted duplication of the short arm of chromosome 12. His phenotype was similar to that of the “trisomy 12p syndrome”, characterized by developmental delays and craniofacial abnormalities including a high forehead, a short nose with anteverted nostrils and an everted lower lip. The second and third patients were a mother and son with a direct 12p12.3p13.1 duplication, exhibiting a milder phenotype characterized by moderate developmental delays, dysmorphic facial features, behavioral problems and obesity. The present data, including the rarity of the familial cases, should contribute to our knowledge of the genotype/phenotype correlation in trisomy 12p patients. 相似文献
999.
1000.
Ofir Moreno Todd Butler Vanessa Zann Ashley Willson Pui Leung Alyson Connor 《Clinical therapeutics》2018,40(11):1855-1867