메뉴 건너뛰기




Volumn 13, Issue 1, 2014, Pages 2290-2298

Prader-Willi-like phenotypes: A systematic review of their chromosomal abnormalities

Author keywords

Mental deficiency; Obesity; Prader Willi syndrome; Prader Willi like phenotype

Indexed keywords

CHROMOSOME 14; CHROMOSOME 15; CHROMOSOME 15Q; CHROMOSOME ABERRATION; CHROMOSOME MUTATION; CLINICAL FEATURE; HUMAN; HYPERPHAGIA; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; OBESITY; PRADER WILLI SYNDROME; PSYCHOMOTOR DISORDER; REVIEW; SYSTEMATIC REVIEW; UNIPARENTAL DISOMY;

EID: 84897935458     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/2014.March.31.9     Document Type: Review
Times cited : (33)

References (29)
  • 1
    • 84864117330 scopus 로고    scopus 로고
    • Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26. 3 in a boy with Prader-Willi like features and hypotonia
    • Ben-Abdallah-Bouhjar I, Hannachi H, Labalme A, Gmidene A, et al. (2012). Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26. 3 in a boy with Prader-Willi like features and hypotonia. Eur. J. Med. Genet. 55: 461-465.
    • (2012) Eur. J. Med. Genet , vol.55 , pp. 461-465
    • Ben-Abdallah-Bouhjar, I.1    Hannachi, H.2    Labalme, A.3    Gmidene, A.4
  • 2
    • 31044455614 scopus 로고    scopus 로고
    • Prader-Willi syndrome: Clinical genetics, cytogenetics and molecular biology
    • Bittel DC and Butler MG (2005). Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev. Mol. Med. 7: 1-20.
    • (2005) Expert Rev. Mol. Med , vol.7 , pp. 1-20
    • Bittel, D.C.1    Butler, M.G.2
  • 3
    • 16644378531 scopus 로고    scopus 로고
    • Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes
    • Borelina D, Engel N, Esperante S, Ferreiro V, et al. (2004). Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes. J. Biochem. Mol. Biol. 37: 522-526.
    • (2004) J. Biochem. Mol. Biol , vol.37 , pp. 522-526
    • Borelina, D.1    Engel, N.2    Esperante, S.3    Ferreiro, V.4
  • 4
    • 0025181455 scopus 로고
    • Prader-Willi syndrome: Current understanding of cause and diagnosis
    • Butler MG (1990). Prader-Willi syndrome: current understanding of cause and diagnosis. Am. J. Med. Genet. 35: 319-332.
    • (1990) Am. J. Med. Genet , vol.35 , pp. 319-332
    • Butler, M.G.1
  • 5
    • 0030726998 scopus 로고    scopus 로고
    • Prader-Willi syndrome
    • Cassidy SB (1997). Prader-Willi syndrome. J. Med. Genet. 34: 917-923.
    • (1997) J. Med. Genet , vol.34 , pp. 917-923
    • Cassidy, S.B.1
  • 7
    • 84874201852 scopus 로고    scopus 로고
    • Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants
    • D'Angelo CS, Kohl I, Varela MC, de Castro CI, et al. (2013). Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants. Am. J. Med. Genet. A 161A: 479-486.
    • (2013) Am. J. Med. Genet. A , vol.161 A , pp. 479-486
    • D'Angelo, C.S.1    Kohl, I.2    Varela, M.C.3    de Castro, C.I.4
  • 8
    • 1842855683 scopus 로고    scopus 로고
    • A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect
    • De Molfetta GA, Felix TM, Riegel M, Ferraz VE, et al. (2002). A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect. Arq. Neuropsiquiatr. 60: 1011-1014.
    • (2002) Arq. Neuropsiquiatr , vol.60 , pp. 1011-1014
    • De Molfetta, G.A.1    Felix, T.M.2    Riegel, M.3    Ferraz, V.E.4
  • 9
    • 84896543472 scopus 로고    scopus 로고
    • Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes
    • Doi: 10. 1038/ejhg. 2013. 189
    • Doco-Fenzy M, Leroy C, Schneider A, Petit F, et al. (2013). Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes. Eur. J. Hum. Genet. Doi: 10. 1038/ejhg. 2013. 189.
    • (2013) Eur. J. Hum. Genet
    • Doco-Fenzy, M.1    Leroy, C.2    Schneider, A.3    Petit, F.4
  • 10
    • 0041822111 scopus 로고    scopus 로고
    • De novo paracentric inversion (X)(q26q28) with features mimicking Prader-Willi syndrome
    • Florez L, Anderson M and Lacassie Y (2003). De novo paracentric inversion (X)(q26q28) with features mimicking Prader-Willi syndrome. Am. J. Med. Genet. A 121A: 60-64.
    • (2003) Am. J. Med. Genet. A , vol.121 A , pp. 60-64
    • Florez, L.1    Anderson, M.2    Lacassie, Y.3
  • 11
    • 62349132896 scopus 로고    scopus 로고
    • Síndrome de Prader-Willi em lactentes hipotônicos
    • Fridman C, Kok F and Koiffmann CP (2000). Síndrome de Prader-Willi em lactentes hipotônicos. J. Pediatr. 76: 246-250.
    • (2000) J. Pediatr , vol.76 , pp. 246-250
    • Fridman, C.1    Kok, F.2    Koiffmann, C.P.3
  • 12
    • 40749099871 scopus 로고    scopus 로고
    • Prader-Willi syndrome phenocopy due to duplication of Xq21. 1-q21. 31, with array CGH of the critical region
    • Gabbett MT, Peters GB, Carmichael JM, Darmanian AP, et al. (2008). Prader-Willi syndrome phenocopy due to duplication of Xq21. 1-q21. 31, with array CGH of the critical region. Clin. Genet. 73: 353-359.
    • (2008) Clin. Genet , vol.73 , pp. 353-359
    • Gabbett, M.T.1    Peters, G.B.2    Carmichael, J.M.3    Darmanian, A.P.4
  • 13
    • 0033951792 scopus 로고    scopus 로고
    • Interstitial 6q deletion with a Prader-Willi-like phenotype: A new case and review of the literature
    • Gilhuis HJ, van Ravenswaaij CM, Hamel BJ and Gabreels FJ (2000). Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature. Eur. J. Paediatr. Neurol. 4: 39-43.
    • (2000) Eur. J. Paediatr. Neurol , vol.4 , pp. 39-43
    • Gilhuis, H.J.1    van Ravenswaaij, C.M.2    Hamel, B.J.3    Gabreels, F.J.4
  • 14
    • 0028900374 scopus 로고
    • DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome
    • Gillessen-Kaesbach G, Gross S, Kaya-Westerloh S, Passarge E, et al. (1995). DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. J. Med. Genet. 32: 88-92.
    • (1995) J. Med. Genet , vol.32 , pp. 88-92
    • Gillessen-Kaesbach, G.1    Gross, S.2    Kaya-Westerloh, S.3    Passarge, E.4
  • 15
    • 1042267409 scopus 로고    scopus 로고
    • Prader-Willi syndrome: Advances in genetics, pathophysiology and treatment
    • Goldstone AP (2004). Prader-Willi syndrome: advances in genetics, pathophysiology and treatment. Trends Endocrinol. Metab. 15: 12-20.
    • (2004) Trends Endocrinol. Metab , vol.15 , pp. 12-20
    • Goldstone, A.P.1
  • 16
    • 0034016043 scopus 로고    scopus 로고
    • Profound obesity associated with a balanced translocation that disrupts the SIM1 gene
    • Holder JL Jr, Butte NF and Zinn AR (2000). Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. Hum. Mol. Genet. 9: 101-108.
    • (2000) Hum. Mol. Genet , vol.9 , pp. 101-108
    • Holder Jr., J.L.1    Butte, N.F.2    Zinn, A.R.3
  • 18
    • 73949156905 scopus 로고    scopus 로고
    • Maternal uniparental disomy 14 syndrome demonstrates Prader-Willi syndrome-like phenotype
    • Hosoki K, Kagami M, Tanaka T, Kubota M, et al. (2009). Maternal uniparental disomy 14 syndrome demonstrates Prader-Willi syndrome-like phenotype. J. Pediatr. 155: 900-903.
    • (2009) J. Pediatr , vol.155 , pp. 900-903
    • Hosoki, K.1    Kagami, M.2    Tanaka, T.3    Kubota, M.4
  • 19
    • 84888023304 scopus 로고    scopus 로고
    • Endocrine phenotype of 6q16. 1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features
    • Izumi K, Housam R, Kapadia C, Stallings VA, et al. (2013). Endocrine phenotype of 6q16. 1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features. Am. J. Med. Genet. A 161A: 3137-3143.
    • (2013) Am. J. Med. Genet. A , vol.161 A , pp. 3137-3143
    • Izumi, K.1    Housam, R.2    Kapadia, C.3    Stallings, V.A.4
  • 20
    • 0034122180 scopus 로고    scopus 로고
    • Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence
    • Lukusa T and Fryns JP (2000). Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence. Genet. Couns. 11: 119-126.
    • (2000) Genet. Couns , vol.11 , pp. 119-126
    • Lukusa, T.1    Fryns, J.P.2
  • 21
    • 35948956334 scopus 로고    scopus 로고
    • Genotype/phenotype correlations in two patients with 12q subtelomere deletions
    • Niyazov DM, Nawaz Z, Justice AN, Toriello HV, et al. (2007). Genotype/phenotype correlations in two patients with 12q subtelomere deletions. Am. J. Med. Genet. A 143A: 2700-2705.
    • (2007) Am. J. Med. Genet. A , vol.143 A , pp. 2700-2705
    • Niyazov, D.M.1    Nawaz, Z.2    Justice, A.N.3    Toriello, H.V.4
  • 23
    • 77952098959 scopus 로고    scopus 로고
    • A 47, XXY patient and Xq21. 31 duplication with features of Prader-Willi syndrome: Results of array-based comparative genomic hybridization
    • Pramyothin P, Pithukpakorn M and Arakaki RF (2010). A 47, XXY patient and Xq21. 31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization. Endocrine 37: 379-382.
    • (2010) Endocrine , vol.37 , pp. 379-382
    • Pramyothin, P.1    Pithukpakorn, M.2    Arakaki, R.F.3
  • 24
    • 0037438443 scopus 로고    scopus 로고
    • Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype
    • Stalker HJ, Keller KL, Gray BA and Zori RT (2003). Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype. Am. J. Med. Genet. A 116A: 176-178.
    • (2003) Am. J. Med. Genet. A , vol.116 A , pp. 176-178
    • Stalker, H.J.1    Keller, K.L.2    Gray, B.A.3    Zori, R.T.4
  • 26
    • 77949416159 scopus 로고    scopus 로고
    • Postnatal Sim1 deficiency causes hyperphagic obesity and reduced Mc4r and oxytocin expression
    • Tolson KP, Gemelli T, Gautron L, Elmquist JK, et al. (2010). Postnatal Sim1 deficiency causes hyperphagic obesity and reduced Mc4r and oxytocin expression. J. Neurosci. 30: 3803-3812.
    • (2010) J. Neurosci , vol.30 , pp. 3803-3812
    • Tolson, K.P.1    Gemelli, T.2    Gautron, L.3    Elmquist, J.K.4
  • 27
    • 77955839380 scopus 로고    scopus 로고
    • 1p36 deletion syndrome associated with Prader-Willi-like phenotype
    • Tsuyusaki Y, Yoshihashi H, Furuya N, Adachi M, et al. (2010). 1p36 deletion syndrome associated with Prader-Willi-like phenotype. Pediatr. Int. 52: 547-550.
    • (2010) Pediatr. Int , vol.52 , pp. 547-550
    • Tsuyusaki, Y.1    Yoshihashi, H.2    Furuya, N.3    Adachi, M.4
  • 28
    • 0036492093 scopus 로고    scopus 로고
    • Diagnosis of patients with Prader-Willi and Angelman Syndromes: The importance of an overall investigation
    • Varela MC, Fridman C and Koiffmann CP (2002). Diagnosis of patients with Prader-Willi and Angelman Syndromes: the importance of an overall investigation. Genet. Mol. Biol. 25: 7-12.
    • (2002) Genet. Mol. Biol , vol.25 , pp. 7-12
    • Varela, M.C.1    Fridman, C.2    Koiffmann, C.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.