000 01500 a2200433 4500
005 20250515031131.0
264 0 _c20060727
008 200607s 0 0 eng d
022 _a1769-7212
024 7 _a10.1016/j.ejmg.2005.07.002
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aGamerdinger, Ulrike
245 0 0 _aFirst report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization.
_h[electronic resource]
260 _bEuropean journal of medical genetics
_c
300 _a225-34 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aChromosome Disorders
_xdiagnosis
650 0 4 _aChromosomes, Human, Pair 3
_xgenetics
650 0 4 _aCytogenetic Analysis
650 0 4 _aFace
_xabnormalities
650 0 4 _aGene Duplication
650 0 4 _aHip Dislocation, Congenital
_xgenetics
650 0 4 _aHumans
650 0 4 _aIn Situ Hybridization, Fluorescence
650 0 4 _aInfant
650 0 4 _aIntellectual Disability
_xgenetics
650 0 4 _aKaryotyping
650 0 4 _aMale
650 0 4 _aMicrosatellite Repeats
650 0 4 _aPhenotype
650 0 4 _aTrisomy
700 1 _aBosse, Kristin
700 1 _aEggermann, Thomas
700 1 _aKalscheuer, Vera
700 1 _aSchwanitz, Gesa
700 1 _aEngels, Hartmut
773 0 _tEuropean journal of medical genetics
_gvol. 49
_gno. 3
_gp. 225-34
856 4 0 _uhttps://doi.org/10.1016/j.ejmg.2005.07.002
_zAvailable from publisher's website
999 _c16358552
_d16358552