Paternal reciprocal translocation t(11;16)(p13;q24.3) in a Silver-Russel syndrome patient

Annales de Genetique

Volumn 46, Issue 4, 2003, Pages 475-478

  Rao, Vundinti Babu ^a   Lily, Kerketta ^a   Seema, Korgaonkar ^a   Ghosh, Kanjaksha ^a   Dipika, Mohanty ^a  

^a KEM HOSPITAL   (India)

Author keywords

Chromosomal abnormality; Paternal transmission; Silver Russel syndrome; Unbalanced translocation

Indexed keywords

GROWTH FACTOR;

ARTICLE; CASE REPORT; CHROMOSOME 13P; CHROMOSOME 24Q; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME TRANSLOCATION 11; CHROMOSOME TRANSLOCATION 16; CLINICAL FEATURE; CLINODACTYLY; CYTOGENETICS; FAMILY HISTORY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DISRUPTION; HUMAN; INFANT; LOW BIRTH WEIGHT; MACROCEPHALY; MALE; PATERNITY TEST; PHENOTYPE; RECIPROCAL CHROMOSOME TRANSLOCATION; SHORT STATURE; SILVER RUSSELL SYNDROME;

EID: 0344392080     PISSN: 00033995     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0003-3995(03)00028-5     Document Type: Article

References (18)

1. H.A. Wollman, T. Kirchner, H. Enders, M.A. Preece, M.B. Ranke, Growth and symptoms in Silver-Russel syndrome: review on the basis of 386 patients, Eur. J. Pediatr. 154 (1995) 958-968.
2. P.A. Duncan, J.G. Hall, L.R. Shapiro, B.K. Vibert, Three generations dominant transmission of the Silver-Russel syndrome, Am. J. Med. Genet. 35 (1995) 245-250.
3. S. Al-Fifi, A.S. Teebi, M. Shevell, Autosomal dominant Russell-Silver syndrome, Am. J. Med. Genet. 61 (1996) 96-97.
4. D. Kotzot, D. Balmer, A. Baumer, K. Chrzanowska, B.C. Hamel, H. Ilyina, M. Krajewska-Walasek, I.W. Luric, B.J. Otten, E. Schoenle, G. Tariverdian, A. Schinzel, Maternal uniparental disomy 7-review and further delineation of the phenotype, Eur. J. Pediatr. 159 (2000) 247-256.
5. B.P. Adhikari, J.N. Berry, J.K.G. Webb, S.B. Lal, K.K. Mathen, M.V. Phadke, S. Rao, Growth and Physical Development of Indian Infants and Children, Technical series, No. 18, Indian Council Of Medical Research, New Delhi, India, 1989.
6. M.P. Hitchins, P. Stainer, M.A. Preece, G.E. Moore, Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions, J. Med. Genet. 38 (2001) 810-819.
7. G.N. Wilson, S.E. Sauder, M. Bush, I.Z. Beitins, Phenotypic delineation of ring chromosome 15 and Russell-Silver syndrome, J. Med. Genet. 22 (1995) 233-236.
8. T. Tamura, T. Tohma, T. Ohta, H. Soejima, N. Harada, K. Abe, N. Niikawa, Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome, Clin. Dysmorphol 2 (1993) 106-113.
9. M.L. Ramirez-Duenas, C. Medina, R. Ocampo-Campos, H. Rivera, Severe Silver-Russell syndrome and translocation (17;20)(q25;q13), Clin. Genet. 41 (1992) 51-53.
10. A.T. Midro, K. Debek, A. Sawicha, D. Marcinkiewicz, M. Rogowska, Second observation of Silver-Russell syndrome in a carrier of a reciprocal translocation with one break point site 17q25, Clin. Genet. 444 (1993) 53-55.
11. T. Eggermann, K. Eggermann, S. Mergenthale, R. Kuner, P. Kaiser, M.B. Ranke, H.A. Wollmann, Paternally inherited deletion of CSH 1 in a patient with Silver-Russell syndrome, J. Med. Genet. 35 (1998) 784-786.
12. P.J. Chauvel, C.M. Moore, R.H. Haslam, Trisomy-18 mosaicism with features of Russell-Silver syndrome. Dev. Med. Child. Neurol. 17 (1975) 220-224.
13. M.F. Christensen, J. Nielsen, Deletion short arm 18 and Silver-Russel syndrome, Acta Pediatr. Scand. 16 (1978) 101-103.
14. A.A. Schinzel, W.P. Robinson, F. Binkert, A. Fanconi, An interstitial deletion of proximal 8q(q11-q13) in a girl with Silver-Russell syndrome-like features, Clin. Dysmorphol. 3 (1994) 63-69.
15. E.W. Roback, A.J. Barakat, V.G. Dev, M. Mbikay, M. Chreiten, M.G. Butler, An infant with deletion of the distal long arm of chromosome 15 (q26.1-qter) and loss of insulin like growth factor gene, Am. J. Med. Genet. 38 (1991) 74-79.
16. S. Dorr, A.T. Midro, C. Farber, J. Giannakudis, I. Hansman, Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-24, Genomics 71 (2001) 174-181.
17. D. Monk, E.L. Wakeling, V. Proud, M. Hitchins, S.N. Abu-Amero, P. Stainer, M.A. Preece, G.E. Moore, Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome, Am. J. Hum. Genet. 66 (2000) 36-46.
18. K. Hanula, M. Lispansen-Nyman, T. Kontiokari, J. Kere, A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region, Am. J. Hum. Genet. 68 (2001) 247-253.