Table 3

DNA probes used for characterisation of the tetrasomic region of chromosome 21

Probe names Gene markers Mapping location3-151 Test results
(copy number)
E9 (cosmid)D21S1621q11.23
B76H73-150 D21S11/S121q11.2-21.14
B839E9D21S383-S38521q21.14
Y221B73-150
B427H6D21S18-S28121q21.123-152
Y193G12
APP (cosmid)APP21q21.22
B96E9D21S303-S12921q21.2-21.32
Y760H5
B8B3D21S390-S26221q21.2-21.32
5F4D21S217-S29921q21.32
B19C7D21S58-S21621q21.32
Y876D4
B417D6D21S296-S8221q22.12
Y62G5
ICRF0251 (cosmid)D21S299 (JG108)21q22.12
138H8 (cosmid)D21S82-S30221q22.32
Y814C1
  • 3-150 B = BAC, Y = YAC.

  • 3-151 The probes have been ordered according to their cytogenetic mapping location.

  • 3-152 The two signals from this and subseqent probes were located on the q arms of the normal chromosomes 21 of the proband.