Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome

Journal of Medical Genetics

Volumn 45, Issue 6, 2008, Pages 396-399

  Bullman, H ^a   Lever, M ^a   Robinson, D O ^a,b   Mackay, D J G ^a,b   Holder, S E ^c   Wakeling, E L ^c  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c EALING HOSPITAL NHS TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 11; CLEFT PALATE; FEMALE; HUMAN; KARYOTYPE; METHYLATION; MICROSATELLITE MARKER; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME; UNIPARENTAL DISOMY;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 11; DNA METHYLATION; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MICROSATELLITE REPEATS; MOSAICISM; POLYMERASE CHAIN REACTION; SYNDROME; UNIPARENTAL DISOMY;

EID: 45249092139     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.057059     Document Type: Article

References (13)

1. Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. The genetic aetiology of Silver-Russell syndrome. J Med Genet 2007 Dec 21; [epub ahead of print].
2. Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet 1999;36:837-42.
3. Eggermann T, Wollmann HA, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke MB. Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet 1997;100:415-19.
4. Netchine I, Rossignol S, Dufourg M-N, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, Raux Demay M-C, Danton F, Petriczko E, Bertrand A-M, Heinrichs C, Carel J-C, Loeuille G-A, Pinto G, Jacquemont M-L, Gicquel C, Cabrol S, Le Bouc Y. 11p15 ICR1 loss of methylation is a common and specific cause of typical Russell-Silver Syndrome: clinical scoring system and epigenetic-phenotypic correlations. J Clin Endocrinol Metab 2007;92:3148-54.
5. Bliek J, Terhal P, van den Bogaard M-J, Maas S, Hamel B. Salieb-Beugelaar G, Simon M, Letteboer T, van der Smagt J, Kroes H, Mannens M. Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. Am J Hum Genet 2006;78:604-14.
6. Eggermann T, Meyer E, Schönherr N, Obermann C, Mavany M, Eggermann K, Ranke MB, Wollmann H A. Epigenetic mutations in 11p15 in Silver-Russell Syndrome are restricted to the telomeric imprinting domain. J Med Genet 2006;43:615-16.
7. Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, Le Merrer M, Burglen L, Bertrand A-M, Netchine I, Le Bouc Y. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 2005;37:1003-7.
8. Schönherr N, Meyer, E, Roos A, Schmidt A, Wollmann, H. A, Eggermann T. The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome. J Med Genet 2007;44: 59-63.
9. Eggermann T, Meyer E, Obermann C, Heil I, Schüler H, Ranke MB, Eggermann K, Wollman HA. Is maternal duplication of 11p15 associated with Silver-Russell syndrome? J Med Genet 2005;42:e26.
10. Fisher A, Thomas NS, Cockwell A, Stecko O, Kerr B, Temple IK, Clayton P. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Hum Genet 2002;111:290-6.
11. Mackay DJG, Boonen SE, Clayton-Smith J, Goodship J, Hahnemann JMD, Kant SG, Njolstad PR, Robin NH, Robinson DO, Sieben R, Shield JPH, White HE, Temple IK. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet 2006;120:262-9.
12. Mackay DJG, Hahnemann JM, Boonen SE, Poerksen S, Bunyan DJ, White HE, Durston V J, Thomas N S, Robinson DO, Shield J P, Clayton-Smith J, Temple IK. Epimutation of the TNDM locus and the Beckwith-Wiedemann Syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. Hum Genet 2006;119:179-84.
13. Cooper WN, Curley R, Macdonald F, Maher ER. Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome. Genomics 2007;89:613-7.