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J Med Genet 40:e27 doi:10.1136/jmg.40.3.e27
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Analphoid de novo marker chromosome inv dup(3)(q28qter) with neocentromere in a dysmorphic and developmentally retarded girl

Table 1

Results of the FISH analysis to characterise the extent of chromosome 3 derived DNA on the marker described here in comparison with the marker chromosomes described by Portnoï et al1 and Kroisel et al6

Absence (−)/presence (+) of FISH signal on the der(3) chromosome of the patient described
Probes used for FISH analysis Marker GenBank Accession number Assignment to band on chromosome 3 This study Portnoï et al1 Kroisel et al6
*The additional material is attached distally to the subtelomeric end at 3q thus forming an elongated 3q+ chromosome.
KNG (Kininogen precursor gene).
ND: not determined.
+, ++, +++ single, double, triple FISH signal.
YAC 806d8 D3S3520 q26.31 ND +*
YAC 760f3 D3S3699 q26.32 ++ +*
YAC 781f8 D3S513 ND ++ +++*
YAC 906c11 D3S1571 q27.1 ND ND
YAC 909d10 KNG q28 ND ND
D3S1314 q28
YAC 883d12 KNG q28 ND ++ +++*
BAC RP11-814o5 D3S3076 AC062008 q28 ND ND
BAC RP11-634l24 AC041034 q28 ++
BAC RP11-69j10 AC026518 q29 ++
BAC RP11-221n10 AC067896 q29 ++
BAC RP11-496h1 AC024560 q29 ++
YAC 763e7 D3S1272 q29 ++ ND ND
YAC 919f12 D3S1272 q29 ND ND ND
pVYS223B 3QTEL05 q29 ++ ND +++*

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