000 01649 a2200469 4500
005 20250515014611.0
264 0 _c20060530
008 200605s 0 0 eng d
022 _a1552-4825
024 7 _a10.1002/ajmg.a.31104
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aWeimer, Jörg
245 0 0 _aCharacterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cMar 2006
300 _a488-95 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAbnormalities, Multiple
_xgenetics
650 0 4 _aAdolescent
650 0 4 _aChild
650 0 4 _aChromosomes, Human, Pair 8
_xgenetics
650 0 4 _aChromosomes, Human, Y
_xgenetics
650 0 4 _aFace
_xabnormalities
650 0 4 _aHumans
650 0 4 _aIn Situ Hybridization, Fluorescence
650 0 4 _aKaryotyping
650 0 4 _aKlinefelter Syndrome
_xpathology
650 0 4 _aMale
650 0 4 _aRing Chromosomes
650 0 4 _aSpeech Disorders
_xpathology
700 1 _aMetzke-Heidemann, Simone
700 1 _aPlendl, Hansjörg
700 1 _aCaliebe, Almuth
700 1 _aGrunewald, Regina
700 1 _aOunap, Katrin
700 1 _aTammur, Pille
700 1 _aJonat, Walter
700 1 _aBartsch, Oliver
700 1 _aSiebert, Reiner
700 1 _aArnold, Norbert
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 140
_gno. 5
_gp. 488-95
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.31104
_zAvailable from publisher's website
999 _c16083366
_d16083366