Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin

European Journal of Human Genetics

Volumn 5, Issue 6, 1997, Pages 417-419

  Arthur, Eidelman I ^a   Zlotogora, Joël ^b   Lerer, Israela ^b   Dagan, Judith ^b   Marks, Kyla ^a   Abeliovich, Dvorah ^b  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Chromosome 6q22 23; Imprinted gene; Inversion duplication; Transient neonatal diabetes mellitus

Indexed keywords

DNA MARKER; INSULIN;

ARTICLE; CASE REPORT; CHROMOSOME 6Q; CHROMOSOME DUPLICATION; DIABETES MELLITUS; FACE DYSMORPHIA; FATHER; FEMALE; GENOME IMPRINTING; HUMAN; HUMAN CELL; INSULIN TREATMENT; KARYOTYPE; NEWBORN; NEWBORN DISEASE; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

EID: 0031440218     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000484801     Document Type: Article

References (10)

1. Shield JP, Gardner RJ, Wadsworth EJ, Whiteford EL, James RS, Robinson DO, Baum JD, Temple IK: Aetiology and genetic basis of neonatal diabetes. Arch Dis Child Fetal Neonatal Ed 1997;76:F39-42.
2. Gosden CM, Davidson C, Robertson M: Lymphocyte culture; in Rooney ED, Czepulkowski BH (eds): Human Cytogenetics, Constitutional Analysis. A Practical Approach, ed 2. Washington, IRL Press, 1992, vol 1, pp 31-54.
3. Benn PA, Perle MA: Chromosome staining and banding techniques; in Rooney DE, Czepulkowski BH (eds): Human Cytogenetics, Constitutional Analysis. A Practical Approach, ed 2. Washington, IRL Press, 1992, vol 1, pp 91-118.
4. Lerer I, Meiner V, Pashut-Lavon I, Abeliovich D: Molecular diagnosis of Prader-Willi syndrome: Parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms. Am J Med Genet 1994;52:79-84.
5. Abramowicz MJ, Andrien M, Dupont E, Dorchy H, Parma J, Duprez J, Ledley FD, Courtens W, Vamos E: Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. J Clin Invest 1994;94:418-421.
6. Temple KI, James RS, Crolla JA, Sitch FL, Jacobs PA, Howell MW, Betts P, Baum DJ, Shield JPH: An imprinted gene(s) for diabetes (?). Nat Genet 1996;9:110-112.
7. Whiteford ML, Narenda A, White MP, Cooke A, Wilkinson AG, Robertson KJ, Tolmie JL: Paternal uniparental disomy for chromosome 6 causing transient neonatal diabetes. J Med Genet 1997;34:167-168.
8. Pivnik EK, Qumsiyeh MB, Tharapel AT, Summitt JB, Wilroy RS: Partial duplication of the long arm of chromosome 6: A clinically recognizable syndrome. J Med Genet 1990;27:523-526.
9. Ziel B, Zneimer SM, Bachman R: Partial trisomy of chromosome 6q, an interstitial duplication of the long arm (abstract 741). Am J Hum Genet 1995;53(4, suppl):A131.
10. Temple KI, Gardner RJ, Robinson DO, Kibirige MS, Ferguson AW, Baum JD, Barber JCK, James RS, Shield JPH: Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 9q22-q23. Hum Mol Genet 1995;5:1117-1124.