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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, Lopez-Gonzalez A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny A, Lorda-Sanchez I, Almoguera B. Martinez-Cayuelas E, et al. J Med Genet. 2023 Jul;60(7):644-654. doi: 10.1136/jmg-2022-108632. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446582
Manifestations present in >50% of the patients and a 'phenotypical score' were used to perform a genotype-phenotype correlation in 340 patients from our cohort and the literature. RESULTS: Neurodevelopmental delay, macrodontia, triangular face, characteristic ear …
Manifestations present in >50% of the patients and a 'phenotypical score' were used to perform a genotype-phenotype correlation in 340 pa …
Silver-Russell syndrome: genetic basis and molecular genetic testing.
Eggermann T, Begemann M, Binder G, Spengler S. Eggermann T, et al. Orphanet J Rare Dis. 2010 Jun 23;5:19. doi: 10.1186/1750-1172-5-19. Orphanet J Rare Dis. 2010. PMID: 20573229 Free PMC article. Review.
A noteable imprinting disorder is Silver-Russell syndrome (SRS), a congenital disease characterised by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry and further less characteristic features. ...
A noteable imprinting disorder is Silver-Russell syndrome (SRS), a congenital disease characterised by intrauterine and postnatal growth ret …
Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation.
Eggermann T, Gonzalez D, Spengler S, Arslan-Kirchner M, Binder G, Schönherr N. Eggermann T, et al. Pediatrics. 2009 May;123(5):e929-31. doi: 10.1542/peds.2008-3228. Epub 2009 Apr 13. Pediatrics. 2009. PMID: 19364767
CONCLUSIONS: In addition to patients with the classical Silver-Russell syndrome phenotype fulfilling the Silver-Russell syndrome-specific scores, genetic testing for the 11p15 epimutation and/or maternal uniparental disomy of chromosome 7 should also be considered in case of "Sil …
CONCLUSIONS: In addition to patients with the classical Silver-Russell syndrome phenotype fulfilling the Silver-Russell syndrome-specific sc …
Distinct 15q genotypes in Russell-Silver and ring 15 syndromes.
Rogan PK, Seip JR, Driscoll DJ, Papenhausen PR, Johnson VP, Raskin S, Woodward AL, Butler MG. Rogan PK, et al. Am J Med Genet. 1996 Mar 1;62(1):10-5. doi: 10.1002/(SICI)1096-8628(19960301)62:1<10::AID-AJMG3>3.0.CO;2-#. Am J Med Genet. 1996. PMID: 8779316 Free PMC article.
Individuals with a ring 15 chromosome [r(15)] and those with Russell-Silver syndrome have short stature, developmental delay, triangular face, and clinodactyly. To assess whether the apparent phenotypic overlap of these conditions reflects a common genetic cause, th …
Individuals with a ring 15 chromosome [r(15)] and those with Russell-Silver syndrome have short stature, developmental delay, triangular …