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Quoted phrase not found in phrase index: "Chromosome 4q21 deletion syndrome"
Page 1
A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability.
Maldžienė Ž, Vaitėnienė EM, Aleksiūnienė B, Utkus A, Preikšaitienė E. Maldžienė Ž, et al. BMC Med Genomics. 2020 Apr 16;13(1):63. doi: 10.1186/s12920-020-0711-4. BMC Med Genomics. 2020. PMID: 32299451 Free PMC article.
BACKGROUND: Interstitial 4q deletions are rare chromosomal alterations. Most of the previously reported deletions involving the 4q13.3 region are large chromosomal alterations with a common loss of band 4q21 resulting in marked growth restrictio …
BACKGROUND: Interstitial 4q deletions are rare chromosomal alterations. Most of the previously reported deletions invol …
8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.
Lipska BS, Brzeskwiniewicz M, Wierzba J, Morzuchi L, Piotrowski A, Limon J. Lipska BS, et al. Genet Couns. 2011;22(4):353-63. Genet Couns. 2011. PMID: 22303795 Review.
We describe a 16-year-old boy with an 8.6Mb interstitial deletion of chromosome 4q 13.3q21.23 identified by oligo array-CGH. ...The analysis of the presented patient against previously published cases allowed us to expand further on the phenotype and to reevaluate p …
We describe a 16-year-old boy with an 8.6Mb interstitial deletion of chromosome 4q 13.3q21.23 identified by oligo array-CGH. . …
Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation.
Grimbacher B, Dutra AS, Holland SM, Fischer RE, Pao M, Gallin JI, Puck JM. Grimbacher B, et al. Genet Med. 1999 Jul-Aug;1(5):213-8. doi: 10.1097/00125817-199907000-00008. Genet Med. 1999. PMID: 11256675 Free article.
Microdissection and FISH analysis of the marker chromosome showed that it was derived from a small interstitial deletion of one homologue of chromosome 4q21. ...FISH using YAC clones from 4q21 confirmed the size and location of the interstitial …
Microdissection and FISH analysis of the marker chromosome showed that it was derived from a small interstitial deletion of on …
An 8-cM interstitial deletion on 4q21-q22 in DNA from an infant with hepatoblastoma overlaps with a commonly deleted region in adult liver cancers.
Terada Y, Imoto I, Nagai H, Suwa K, Momoi M, Tajiri T, Onda M, Inazawa J, Emi M. Terada Y, et al. Am J Med Genet. 2001 Oct 1;103(2):176-80. doi: 10.1002/ajmg.1521. Am J Med Genet. 2001. PMID: 11568928
We performed molecular analysis of a germline interstitial deletion of chromosome 4 [del(4)(q21.22q23)], which had been observed in a male infant manifesting early-onset hepatoblastoma (HBL). ...The analysis revealed that the affected chromosome had an …
We performed molecular analysis of a germline interstitial deletion of chromosome 4 [del(4)(q21.22q23)], which had been obs …
De novo interstitial deletion in the long arm of chromosome 11: a case report.
Li LL, Zhang HG, Shao XG, Gao JC, Zhang HY, Liu RZ. Li LL, et al. Genet Mol Res. 2016 Jul 14;15(2). doi: 10.4238/gmr.15028403. Genet Mol Res. 2016. PMID: 27421024 Free article.
A few case reports have been made about de novo interstitial deletion of chromosome 11q. However, due to the heterogeneity in size and position of the deletions, a clear genotype-phenotype correlation is not easily made. Here we report a case interstitial 20. …
A few case reports have been made about de novo interstitial deletion of chromosome 11q. However, due to the heterogeneity in …
A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability.
Assawamakin A, Wattanasirichaigoon D, Tocharoentanaphol C, Waeteekul S, Tansatit M, Thongnoppakhun W, Limwongse C. Assawamakin A, et al. Am J Med Genet A. 2012 Apr;158A(4):901-8. doi: 10.1002/ajmg.a.35259. Epub 2012 Mar 14. Am J Med Genet A. 2012. PMID: 22419381
Initial standard karyotypes of the three individuals showed an apparently balanced translocation of chromosomes 8 and 20. Using molecular cytogenetic techniques, we observed complex structural chromosomal aberration comprising of reciprocal translocation betw …
Initial standard karyotypes of the three individuals showed an apparently balanced translocation of chromosomes 8 and 20. Using molec …
Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H, Yuksel-Apak M, Paller AS, Norton K, Teebi AS, Grum-Tokars V, Martin GS, Davis GE, Glucksman MJ, Martignetti JA. Dowling O, et al. Am J Hum Genet. 2003 Oct;73(4):957-66. doi: 10.1086/378781. Epub 2003 Sep 12. Am J Hum Genet. 2003. PMID: 12973667 Free PMC article.
Both are believed to be allelic disorders; ISH is distinguished from JHF by its more severe phenotype, which includes hyaline deposits in multiple organs, recurrent infections, and death within the first 2 years of life. Using the previously reported chromosome 4q21 …
Both are believed to be allelic disorders; ISH is distinguished from JHF by its more severe phenotype, which includes hyaline deposits in mu …
Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.
Martínez F, Tomás M, Millán JM, Fernández A, Palau F, Prieto F. Martínez F, et al. J Med Genet. 1998 Apr;35(4):284-7. doi: 10.1136/jmg.35.4.284. J Med Genet. 1998. PMID: 9598720 Free PMC article.
By multipoint linkage analysis with markers spanning the whole X chromosome, we have tentatively assigned the underlying genetic defect to Xp11.4-q21, achieving a maximum lod score of 1.3. ...We discuss the possibility that both phenotypes might be allelic variants …
By multipoint linkage analysis with markers spanning the whole X chromosome, we have tentatively assigned the underlying genetic defe …
Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation.
Lorda-Sanchez IJ, Ibañez AJ, Sanz RJ, Trujillo MJ, Anabitarte ME, Querejeta ME, Rodriguez de Alba M, Gimenez A, Infantes F, Ramos C, Garcia-Sandoval B, Ayuso C. Lorda-Sanchez IJ, et al. Ophthalmic Genet. 2000 Sep;21(3):185-9. Ophthalmic Genet. 2000. PMID: 11035551
The X-chromosomal breakpoint was located within a region where both the choroideremia locus and a deafness locus (DFN3/POU3F4) have been mapped. The presence of X-linked disorders in this balanced carrier of X-autosomal translocations (XAT) can be explained either by the d …
The X-chromosomal breakpoint was located within a region where both the choroideremia locus and a deafness locus (DFN3/POU3F4) have b …