000 01257 a2200373 4500
005 20250514020647.0
264 0 _c20020131
008 200201s 0 0 eng d
022 _a0148-7299
040 _aNLM
_beng
_cNLM
100 1 _aCockwell, A E
245 0 0 _aFISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation.
_h[electronic resource]
260 _bAmerican journal of medical genetics
_cNov 2001
300 _a289-94 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdult
650 0 4 _aAngelman Syndrome
_xdiagnosis
650 0 4 _aChromosome Aberrations
650 0 4 _aChromosome Inversion
650 0 4 _aChromosomes, Human, Pair 15
_xgenetics
650 0 4 _aDNA Probes
_xgenetics
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aIn Situ Hybridization, Fluorescence
650 0 4 _aKaryotyping
650 0 4 _aLymphocytes
650 0 4 _aMale
650 0 4 _aMosaicism
_xdiagnosis
650 0 4 _aPrader-Willi Syndrome
_xdiagnosis
700 1 _aDávalos, I P
700 1 _aRivera, H R
700 1 _aCrolla, J A
773 0 _tAmerican journal of medical genetics
_gvol. 103
_gno. 4
_gp. 289-94
999 _c11658981
_d11658981