@article{ Balikova2007,
  author = {Irina Balikova and Björn Menten and Thomy J L Ravel and Cédric Le Caignec and Bernard Thienpont and Montse Urbina and Martine Doco-Fenzy and Marjan Rademaeker and Geert Mortier and Frank Kooy and Janneke Ende and Koen Devriendt and Jean Pierre Fryns and Frank Speleman and Joris Robert Vermeesch},
  title = {Subtelomeric imbalances in phenotypically normal individuals.},
  journal = {Human mutation},
  abstract = {Subtelomeric imbalances are identified in approximately 5% of patients with idiopathic mental retardation (MR) and multiple congenital anomalies (MCA). Because of this high incidence, screening for subtelomeric anomalies became part of the routine genetic evaluation of MCA/MR patients. In contrast to the general view that subtelomeric imbalances cause MCA/MR, we report here 15 subtelomeric copy-number changes in 12 families in which the imbalance is inherited from a phenotypically normal parent. We detected inherited deletions at subtelomeres 2q, 3p, 4p, 4q, 6q, 10q, 17p, 17q, Xp, and Yq and duplications at 1q, 4q, 10q, and 11q. Interestingly, in addition to small deletions (<1 Mb) also unexpected large deletions and duplications up to 7.8 Mb were detected. Taken together with previous reports, a total of 16 subtelomeric duplications and 18 deletions inherited from a phenotypically normal parent have now been reported. Clearly, more extensive genotype-phenotype correlations are needed to better understand the phenotypic consequences of these subtelomeric copy number variations and to resolve the current uncertainty for genetic counseling in postnatal and prenatal diagnosis.},
  issn = {1098-1004},
  month = {October},
  pages = {958--67},
  volume = {28},
  number = {10},
  url = {http://www.ncbi.nlm.nih.gov/pubmed/17492636},
  year = {2007}
}

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Because of this high incidence, screening for subtelomeric anomalies became part of the routine genetic evaluation of MCA/MR patients. In contrast to the general view that subtelomeric imbalances cause MCA/MR, we report here 15 subtelomeric copy-number changes in 12 families in which the imbalance is inherited from a phenotypically normal parent. We detected inherited deletions at subtelomeres 2q, 3p, 4p, 4q, 6q, 10q, 17p, 17q, Xp, and Yq and duplications at 1q, 4q, 10q, and 11q. Interestingly, in addition to small deletions (&lt;1 Mb) also unexpected large deletions and duplications up to 7.8 Mb were detected. Taken together with previous reports, a total of 16 subtelomeric duplications and 18 deletions inherited from a phenotypically normal parent have now been reported. Clearly, more extensive genotype-phenotype correlations are needed to better understand the phenotypic consequences of these subtelomeric copy number variations and to resolve the current uncertainty for genetic counseling in postnatal and prenatal diagnosis.","author":["Balikova, Irina","Menten, Björn","Ravel, Thomy J L","Caignec, Cédric Le","Thienpont, Bernard","Urbina, Montse","Doco-Fenzy, Martine","Rademaeker, Marjan","Mortier, Geert","Kooy, Frank","Ende, Janneke","Devriendt, Koen","Fryns, Jean Pierre","Speleman, Frank","Vermeesch, Joris Robert"],"author_short":["Balikova, I.","Menten, B.","Ravel, T.<nbsp>J<nbsp>L","Caignec, C.<nbsp>L.","Thienpont, B.","Urbina, M.","Doco-Fenzy, M.","Rademaeker, M.","Mortier, G.","Kooy, F.","Ende, J.","Devriendt, K.","Fryns, J.<nbsp>P.","Speleman, F.","Vermeesch, J.<nbsp>R."],"bibtex":"@article{ Balikova2007,\n author = {Irina Balikova and Björn Menten and Thomy J L Ravel and Cédric Le Caignec and Bernard Thienpont and Montse Urbina and Martine Doco-Fenzy and Marjan Rademaeker and Geert Mortier and Frank Kooy and Janneke Ende and Koen Devriendt and Jean Pierre Fryns and Frank Speleman and Joris Robert Vermeesch},\n title = {Subtelomeric imbalances in phenotypically normal individuals.},\n journal = {Human mutation},\n abstract = {Subtelomeric imbalances are identified in approximately 5% of patients with idiopathic mental retardation (MR) and multiple congenital anomalies (MCA). Because of this high incidence, screening for subtelomeric anomalies became part of the routine genetic evaluation of MCA/MR patients. In contrast to the general view that subtelomeric imbalances cause MCA/MR, we report here 15 subtelomeric copy-number changes in 12 families in which the imbalance is inherited from a phenotypically normal parent. We detected inherited deletions at subtelomeres 2q, 3p, 4p, 4q, 6q, 10q, 17p, 17q, Xp, and Yq and duplications at 1q, 4q, 10q, and 11q. Interestingly, in addition to small deletions (&lt;1 Mb) also unexpected large deletions and duplications up to 7.8 Mb were detected. Taken together with previous reports, a total of 16 subtelomeric duplications and 18 deletions inherited from a phenotypically normal parent have now been reported. Clearly, more extensive genotype-phenotype correlations are needed to better understand the phenotypic consequences of these subtelomeric copy number variations and to resolve the current uncertainty for genetic counseling in postnatal and prenatal diagnosis.},\n issn = {1098-1004},\n month = {October},\n pages = {958--67},\n volume = {28},\n number = {10},\n url = {http://www.ncbi.nlm.nih.gov/pubmed/17492636},\n year = {2007}\n}","bibtype":"article","id":"Balikova2007","issn":"1098-1004","journal":"Human mutation","key":"Balikova2007","month":"October","number":"10","pages":"958--67","title":"Subtelomeric imbalances in phenotypically normal individuals.","type":"article","url":"http://www.ncbi.nlm.nih.gov/pubmed/17492636","volume":"28","year":"2007","bibbaseid":"balikova-menten-ravel-caignec-thienpont-urbina-docofenzy-rademaeker-mortier-kooy-ende-devriendt-fryns-speleman-vermeesch-subtelomericimbalancesinphenotypicallynormalindividuals-2007","role":"author","urls":{"Paper":"http://www.ncbi.nlm.nih.gov/pubmed/17492636"},"downloads":0},"bibtype":"article","biburl":"http://data.bibbase.org/author/frank-speleman/?format=bibtex","downloads":0,"keywords":[],"search_terms":["subtelomeric","imbalances","phenotypically","normal","individuals","balikova","menten","ravel","caignec","thienpont","urbina","doco-fenzy","rademaeker","mortier","kooy","ende","devriendt","fryns","speleman","vermeesch"],"title":"Subtelomeric imbalances in phenotypically normal individuals.","year":2007,"dataSources":["yNRxuNCacwT9rAT34"]}