000 01619 a2200481 4500
005 20250515102925.0
264 0 _c20080118
008 200801s 0 0 eng d
022 _a1424-859X
024 7 _a10.1159/000109634
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aBartsch, O
245 0 0 _aTwo independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.
_h[electronic resource]
260 _bCytogenetic and genome research
_c2007
300 _a158-64 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAdult
650 0 4 _aChild, Preschool
650 0 4 _aChromosome Deletion
650 0 4 _aChromosomes, Human, Pair 17
_xgenetics
650 0 4 _aChromosomes, Human, Pair 7
_xgenetics
650 0 4 _aCytogenetics
650 0 4 _aFemale
650 0 4 _aGene Duplication
650 0 4 _aHumans
650 0 4 _aIn Situ Hybridization, Fluorescence
650 0 4 _aInfant
650 0 4 _aMale
650 0 4 _aNeurofibromatoses
_xgenetics
650 0 4 _aOligonucleotide Array Sequence Analysis
650 0 4 _aTelomere
_xclassification
700 1 _aVlcková, Z
700 1 _aErdogan, F
700 1 _aUllmann, R
700 1 _aNovotná, D
700 1 _aSpiegel, M
700 1 _aBeyer, V
700 1 _aHaaf, T
700 1 _aZechner, U
700 1 _aSeemanová, E
773 0 _tCytogenetic and genome research
_gvol. 119
_gno. 1-2
_gp. 158-64
856 4 0 _uhttps://doi.org/10.1159/000109634
_zAvailable from publisher's website
999 _c17672006
_d17672006