Severe Silver‐Russell syndrome and translocation (17;20) (q25;q13)

Ramírez-Dueñas, María de Lourdes; Medina, Cristina Touguinha Neves; Ocampo-Campos, R; Rivera, Humberto Fernando Cantú

doi:10.1111/j.1399-0004.1992.tb03630.x

Cited by 57 publications

(12 citation statements)

References 6 publications

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“…Apart from patients with duplication 11p15 (n = 15), microdeletion 12q14 (n = 19), ring chromosome 15, and deletion 15qter, at least 30 patients with various other chromosomal rearrangements (10 deletions, 9 duplications, and 11 other aberrations) have been reported (Tables –). Two patients from the group with various chromosomal rearrangements carry a balanced translocation (one paternally inherited 17;20 translocation and one de novo 1;17 translocation) [Ramírez‐Dueñas et al, ; Midro et al, ]. In six patients with duplication 11p15, additional most likely clinically relevant imbalances were described [Fisher et al, ; Eggermann et al, ; South et al, ; Bliek et al, ; Hu et al, ].…”

Section: Resultsmentioning

confidence: 99%

Chromosomal rearrangements in patients with clinical features of Silver–Russell syndrome

Fokstuen

Kotzot

2014

American J of Med Genetics Pt A

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Silver-Russell syndrome (SRS) is characterized by pre- and postnatal growth retardation, relative macrocephaly, asymmetry, and a triangular facial gestalt. In 5-10% of the patients the phenotype is caused by maternal UPD 7, and 38-64% of the patients present with hypomethylation at the imprinting center region 1 (ICR1) on 11p15.5. The etiology of the remaining cases is so far not known and various (sub-)microscopic chromosome aberrations with a phenotype resembling SRS have been published, especially duplication 11p15 (n = 15), deletion 12q14 (n = 19), ring chromosome 15, deletion 15qter, and various other mostly unique chromosomal aberrations (n = 30). In this study the phenotypes of these chromosomal aberrations were revisited and compared with the phenotypes of maternal UPD 7 and hypomethylation at ICR1 on 11p15.5. In some patients with a unique chromosomal aberration even the hallmarks of SRS were missing. Patients with duplication 11p15 show a more variable occipitofrontal head circumference at birth, a higher frequency of intellectual disability, and additional anomalies not reported in SRS. Deletion 12q14 is characterized by less severe pre- and postnatal growth retardation and less impressive relative macrocephaly. Patients with ring chromosome 15 and deletion 15qter have no relative macrocephaly (mostly even microcephaly) and more severe intellectual disability. Finally, deletion 15qter lacks the triangular facial gestalt. In summary, as SRS seems not an adequate diagnosis in many of these patients, diagnosis should focus on the chromosomal aberration than on SRS.

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Section: Resultsmentioning

confidence: 99%

Chromosomal rearrangements in patients with clinical features of Silver–Russell syndrome

Fokstuen

Kotzot

2014

American J of Med Genetics Pt A

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“…According to ISCN/HGVS the balanced translocation 46,XX,t(17;20)(q25;q13)pat (Ramírez‐Dueñas, Medina, Ocampo‐Campos, & Rivera, ) is described for der(17) as g.[chr17:pter_cen_(70900001_qter)::chr20:(41700001_qter)_qter and for der(20) as g.[chr20:pter_cen_(41700001_qter)::chr17:(70900001_qter)‐qter]. 70900001_qter is the coordinate for chromosome band 17q25, which also includes 17qter and the exact breakpoint is not known.…”

Section: Curation Of the Databasementioning

confidence: 99%

Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database

et al. 2018

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Silver-Russell syndrome (SRS) is a clinically and molecularly heterogeneous disorder involving prenatal and postnatal growth retardation, and the term SRS-like is broadly used to describe individuals with clinical features resembling SRS. The main molecular subgroups are loss of methylation of the distal imprinting control region (H19/IGF2:IG-DMR) on 11p15.5 (50%) and maternal uniparental disomy of chromosome 7 (5%-10%). Through a comprehensive literature search, we identified 91 patients/families with various structural and small sequence variants, which were suggested as additional molecular defects leading to SRS/SRS-like phenotypes. However, the molecular and phenotypic data of these patients were not standardized and therefore not comparable, rendering difficulties in phenotype-genotype comparisons. To overcome this challenge, we curated a disease database including (epi)genetic phenotypic data of these patients. The clinical features are scored according to the Netchine-Harbison clinical scoring system (NH-CSS), which has recently been accepted as standard by consensus. The structural and sequence variations are reviewed and where necessary redescribed according to recent recommendations. Our study provides a framework for both research and diagnostic purposes through facilitating a standardized comparison of (epi)genotypes with phenotypes of patients with structural/sequence variants.

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“…Analysis of genes in this region did not lead to the identification of a candidate gene involved in the syndrome. Various other chromosomal abnormalities have been described, including trisomy 1q32.1-q42.1 (van Haelst et al 2002), deletion of chromosome 15q or ring chromosome 15 (Rogan et al 1996), 18pϪ (Christensen and Nielsen 1978), translocations involving breakpoints 17q25 (Ramirez-Duenas et al 1992) and 17q23-24 (Dorr et al 2001), and, finally, a paternally inherited deletion of the CSH1 gene at chromosome 17q22-24 (Eggermann et al 1998). , Fisher et al (2002 reported three patients with a phenotype that includes growth retardation.…”

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confidence: 99%

Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

Bliek

Terhal

Bogaard

et al. 2006

The American Journal of Human Genetics

194

159

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The H19 differentially methylated region (DMR) controls the allele-specific expression of both the imprinted H19 tumor-suppressor gene and the IGF2 growth factor. Hypermethylation of this DMR--and subsequently of the H19 promoter region--is a major cause of the clinical features of gigantism and/or asymmetry seen in Beckwith-Wiedemann syndrome or in isolated hemihypertrophy. Here, we report a series of patients with hypomethylation of the H19 locus. Their main clinical features of asymmetry and growth retardation are the opposite of those seen in patients with hypermethylation of this region. In addition, we show that complete hypomethylation of the H19 promoter is found in two of three patients with the full clinical spectrum of Silver-Russell syndrome. This syndrome is also characterized by growth retardation and asymmetry, among other clinical features. We conclude that patients with these clinical features should be analyzed for H19 hypomethylation.

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Severe Silver‐Russell syndrome and translocation (17;20) (q25;q13)

Cited by 57 publications

References 6 publications

Chromosomal rearrangements in patients with clinical features of Silver–Russell syndrome

Chromosomal rearrangements in patients with clinical features of Silver–Russell syndrome

Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database

Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

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