000 01526 a2200433 4500
005 20250514053240.0
264 0 _c20030530
008 200305s 0 0 eng d
022 _a1552-4825
024 7 _a10.1002/ajmg.a.10830
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aStarke, Heike
245 0 0 _aFirst patient with trisomy 21 accompanied by an additional der(4)(:p11 --> q11:) plus partial uniparental disomy 4p15-16.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cJan 2003
300 _a26-30 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aChromosome Aberrations
650 0 4 _aChromosome Banding
650 0 4 _aChromosomes, Human, Pair 21
_xgenetics
650 0 4 _aChromosomes, Human, Pair 4
_xgenetics
650 0 4 _aDown Syndrome
_xgenetics
650 0 4 _aHumans
650 0 4 _aIn Situ Hybridization, Fluorescence
650 0 4 _aInfant
650 0 4 _aKaryotyping
650 0 4 _aMale
650 0 4 _aTrisomy
650 0 4 _aUniparental Disomy
700 1 _aMitulla, Beate
700 1 _aNietzel, Angela
700 1 _aHeller, Anita
700 1 _aBeensen, Volkmar
700 1 _aGrosswendt, Gisela
700 1 _aClaussen, Uwe
700 1 _avon Eggeling, Ferdinand
700 1 _aLiehr, Thomas
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 116A
_gno. 1
_gp. 26-30
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.10830
_zAvailable from publisher's website
999 _c12281195
_d12281195