Table 6.
Cases with previous abnormal chromosomal results.
| case | Karyotype | CMA arr[hg19] | Size (Kbp) | Interpretation | Notes |
|---|---|---|---|---|---|
| #44 | 46, XX, del(22)(q13) | 22q13.2q13.33(43,600,479-51,197,766)x1 | 7.597 | Phelan-McDermid Syndrome | As expected, CMA showed a deletion in chromosome 22, where the sequence involved was clarified. |
| #56 | XY,46, del(8)(p21-p11) | 8p21.1p11.21(28,393,484-41,026,001)x1 | 12.632 | 8p11.2 deletion syndrome | As expected, CMA showed a deletion in chromosome 8, where the sequence involved was clarified. |
| #116 | 46, XY, add(22q) | Xq26.3q28(135,224,845-155,233,098)x2 | 20.008 | Region includes Xq26.3, Xq27.3-q28 and Xq28 duplication syndromes | CMA showed that the DNA added to chromosome 12 derived from the terminal part of chromosome Xq. |
| #127 | 46, XX, add(18)(q23) | 10q25.1q26.3(108,553,165-135,427,143)x3 | 26.873 |
Distal trisomy 10q syndrome and Distal 18q deletion syndrome |
CMA showed that the additional DNA in chromosome 18 is derived from chromosome 10q, probably as result of an unbalanced t(18,10), causing also deletion of the terminal part of 18q. It is possible that one of the parents is an equilibrated carrier of the translocation. |
| 18q22.3q23(69,055,745-78,014,123)x1 | 8.958 | ||||
| #196 | 46, XX,5p+ | 18q21.2q22.1(49,094,563-66,586,144)x3 | 17.492 |
Distal trisomy 18q Cri du Chat syndrome |
CMA showed that the additional DNA in chromosome 5 is derived from chromosome 18q, probably as result of an unbalanced t(5,18), causing also a large deletion of the terminal part of 5p. It is possible that one of the parents is an equilibrated carrier of the translocation. |
| 18q22.1q23(66,593,317-78,014,123)x3 | 11.421 | ||||
| 5p15.33p15.2(113,576-12,747,875)x1 | 12.634 | ||||
| #219 | 46, XX, add(8)(p23.1) | 8p23.1p11.22(11,935,023-39,246,760)x3 | 27.311 | 8p inverted duplication/deletion [invdupdel(8p)] syndrome | CMA showed that the additional DNA in chromosome 8 is indeed from the same chromosome and also a deletion in 8p occurred, characterizing the 8p inverted duplication/deletion syndrome. |
| 8p11.22p11.21(39,388,765-42,335,424)x3 | 6.782 | ||||
| 8p23.3p23.1(158,048-6,940,661)x1 | 3.882 | ||||
| #263 | 47, XY +mar | 9p24.2p22.2(4,339,192-18,272,756)x1 | 13.934 | 9p deletion syndrome | Unexpectedly the CMA revealed a deletion in chromosome 9, instead of additional DNA for the marker chromosome. Possibly the marker chromosome is satellite DNA. |
| #305 | 46, XY, add(X)(p22) | Xq27.3q28(142,412,280-155,233,098)x2 | 12.821 | Region includes Xq27.3-q28 and Xq28 duplication syndromes | A duplication was found, as expected, showing that it refers to the terminal region of the X chromosome itself. |
| #339 | 46, XX, Inv (12)(p13q24.1) | 12p13.2p13.1(10,922,516-12,937,320)x1 | 2.015 | A pericentromeric inversion with a deletion in chromosome 12 | CMA showed that the inversion caused a deletion in 12p13. |
| #392 | 46, XY, r(21)(p21q22.3)[?]/46, XY, idic(21)(p13)[?] | 21q11.2q22.3(15,006,457-44,968,648)x3 | 29.962 | Trisomy of chromosome 21 with a loss of the distal part of 21q22.3 | CMA showed the trisomy of chromosome 21q, 21(11.2q22.3), revealing that the ring chromosome probably is iso21(11.2q22.3), with a deletion in the distal part of 21(22.3q). |
| 21q22.3(44,974,017-45,685,800)x3 | 711 | ||||
| 21q22.3(45,685,800-48,097,372)x1 | 2.411 | ||||
| #422 | 47, XY +mar | 18p11.32p11.21(136,227-15,099,116)x4 | 14.963 | Tetrasomy 18p | CMA revealed that the marker chromosome is an isochromosome 18p. |
| #407 | 46, XX, add(21)(q22.3) | 3q26.1q29(166,855,496-197,851,444)x3 | 30.996 | 3q26.1-q29 duplication syndrome | CMA showed that the additional DNA on chromosome 21 derived from chromosome 3q. |
| #138 | 46, XY, del(Yp)[30] |
VOUS 6p21.2(37,609,169-37,868,513)x3 |
259 | A small duplication in chromosome 6, considered a VOUS was found. | New karyotyping to clarify previous test would be advisable. |
| #175 | 46, XY, t(4; 7) (q31; p14) | Normal CMA result | — | Probably a balanced translocation | One translocation break point possibly disrupted a gene that causes the phenotype. Break-point mapping and sequencing would be advisable. |
| #282 | 46, XY, der(10p)? translocation? | Normal CMA result | — | Possibly a balanced translocation. There was a question mark. | New karyotyping to clarify previous test would be advisable. |
| #412 | 46, XY, add(13)? | Normal CMA result | — | There was a question mark. Possibly a new karyotyping could give clearer results. | New karyotyping to clarify previous test would be advisable. |
| #430 | 46, XX, add(13) PSK? | Normal CMA result | — | There was a question mark. Possibly a new karyotyping could give clearer results. | New karyotyping to clarify previous test would be advisable. |