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M N Collinson, S Huang, JN Macpherson, VK Maloney, AC Skinner, A Karcanias, NA Affara, NS Thomas

Discrepant cytogenetic, MLPA and array CGH results on a der(X)(pter->q27.2::p22.31->pter): the advantages of an integrated approach. M N Collinson, S Huang, JN Macpherson, VK Maloney, AC Skinner, A Karcanias, NA Affara, NS Thomas. 30 year old female with premature ovarian failure (POF).

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M N Collinson, S Huang, JN Macpherson, VK Maloney, AC Skinner, A Karcanias, NA Affara, NS Thomas

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  1. Discrepant cytogenetic, MLPA and array CGH results on a der(X)(pter->q27.2::p22.31->pter): the advantages of an integrated approach. • M N Collinson, S Huang, JN Macpherson, VK Maloney, AC Skinner, A Karcanias, NA Affara, NS Thomas

  2. 30 year old female with premature ovarian failure (POF) molecular genetic testing for a FRAXA premutation cytogenetic analysis only one allele found ?45,X or 46,XY 46,XX

  3. MLPA with the Rett syndrome kit MRC-Holland kit PO15C

  4. LIST OF PROBES USED FOR FISH TO CONFIRM DELETION Centromere RP1-142F18 Normal (Xq27.2) RP1-315J21 Deleted (Xq27.3) RP11-79A21 Deleted (Xq27.3) RP11-37P24 Deleted (fragile X locus) RP11-161L9 Deleted (fragile X locus) RP11-64L19 Deleted (Xq28) RP11-533H4 Deleted (Xq28) RP11-76K17 Deleted (Xq28) RP11-402H20 Deleted (Xq28) Telomere

  5. FISH with a probe for the FRAXA gene RP11-161L9 X centromere (control)

  6. Blind cytogenetic analysis – 3 control slides and 3 slides from POF patient scored by 3 independent analysts

  7. Partial karyotype of the X chromosomes (abnormal X on the right)

  8. MLPA with the subtelomere probe kit MRC-Holland kit PO36B

  9. FISH with the Xp and Xq subtelomere probes CY29 (Xp subtelomere) c8.1/2 (Xq subtelomere)

  10. Array-CGH Agilent 244K oligoarray

  11. FISH with SHOX probe RP11-946P8 DXZ2 (X centromere control)

  12. MLPA with SHOX kit PO18B Duplication of SHOX POF case

  13. NORMAL CASE FEMALE CONTROL MALE CONTROL Array CGH with chip specifically designed for sex chromosome abnormalities

  14. POF CASE FEMALE CONTROL MALE CONTROL Array CGH with chip specifically designed for sex chromosome abnormalities

  15. L.M. Russell et al, Cytogenet Genome Res 116:181-185 (2007)

  16. Original cytogenetic analysis – 1/30 metaphases 45,X Blind FISH study with X centromere probe (DXZ2) POF case Control Metaphases 1/30 45,X (3.3%) 1/30 45,X (3.3%) Interphase cells 8/100 45,X (8%) 6/100 45,X (6%)

  17. Summary • An integrated approach was required to establish the true nature of the X chromosome abnormality • Highlights the fact that one should be cautious of any shifts from the baseline when analysing array CGH as it may mask significant changes in log ratios • We still do not have a satisfactory explanation of our results other than mosaicism • Deletions of this region of Xq have been reported in association with POF

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