Table 3.
Summary of microdeletions, microduplications, and terminal abnormalities seen in on-going pregnancies and fetal demise referrals, excluding those with known abnormal karyotypes and family history of a rearrangement carrier parent
| Microarray finding | Number of deletions | Number of duplications |
|---|---|---|
| Known microdeletion or microduplication syndrome | ||
| Beckwith–Wiedemann syndrome, 11p15 deletion | 1 | NR |
| 12q14q15 microdeletion syndrome | 1 | NR |
| PW/AS 15q11q13 deletion | 2 | Reduced penetrance: 1 |
| Rubenstein–Taybi Syndrome (CREBBP 16p13.3 deletion) | 1 | NR |
| Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (FOXF1 16q24.1 deletion) | 1 | NR |
| HNPP (17p12) | 5 | 0 |
| 17q23.2 microdeletion | 1 | 0 |
| 22q11.21 deletion syndrome | 128 | Reduced penetrance: 58 |
| 2p15p16 microdeletion syndrome | 1 | NR |
| Capillary malformation-arteriovenous malformation (RASA1 5q14.3 deletion) | 1 | NR |
| Congenital contractural arachnodactyly/Beals syndrome (FBN2 5q23.3 deletion) | 1 | NR |
| Greig cephalopolysyndactyly syndrome (GLI3 7p14.1 deletion) | 1 | NR |
| 8p23.1 microdeletion/microduplication | 1 | 1 |
| 9q34.3 microdeletion (EHMT1 deletion) | 1 | NR |
| DMD deletion | 2 males8, 2 carrier females | NR |
| SHOX deletion | 28 | NR |
| STS deletion | 3 males, 4 carrier females | Benign |
| 14q22q23 microdeletion syndrome | 1 | NR |
| Simpson-Golabi-Behmel syndrome (GPC3 Xq26.2 deletion) | 1 | NR |
| Split hand/foot (FBXW4 10q24 duplication) | NR | 1 |
| 7q11.23 microduplication (reciprocal to WBS) | 0 | 1 |
| Microdeletions and microduplications with reduced penetrance | ||
| 15q11.2 BP1-BP2 microdeletion | 198 | Benign |
| Distal 16p11.2 microdeletion/microduplication | 3 | 38 |
| Proximal 16p11.2 microdeletion/microduplication | 3 | 28 |
| 16p12.1 microdeletion | 3 | Benign |
| 16p13.11 microdeletion | 4 | Unclear: 9 |
| 17q12 microdeletion (RCAD) | 4 | 0 |
| 1q21.1 proximal microdeletion (TAR)/microduplication | 6 | 5 |
| 1q21.1 distal microdeletion/microduplication | 38 | 4 |
| 22q11.21 atypical microdeletion | 1 | Unclear: 3 |
| 22q11 distal microdeletion | 1 | 0 |
| NRXN1 deletion | 2 | NR |
| Terminal chromosome abnormalities | ||
| 1p | 1 | 19 |
| 1q | 19 | 19 |
| 4p | 58,9 | 0 |
| 4q | 19 | 48,9 |
| 5p | 19 | 0 |
| 5q | 19 | 19 |
| 6p | 38 | 0 |
| 6q | 19 | 28 |
| 7p | 0 | 48,9 |
| 7q | 68,9 | 19 |
| 8p | 19 | 29 |
| 8q | 0 | 19 |
| 9p | 18 | 0 |
| 9q | 29 | 0 |
| 10p | 0 | 19 |
| 10q | 19 | 19 |
| 11p | 0 | 19 |
| 13q | 29 | 0 |
| 14q | 1 | 19 |
| 16p | 19 | 19 |
| 17p | 39 | 0 |
| 17q | 0 | 28,9 |
| 18p | 18 | 0 |
| 18q | 19 | 28 |
| 19q | 0 | 19 |
| 20p | 0 | 19 |
| 20q | 0 | 19 |
HNPP, hereditary neuropathy with liability to pressure palsies; NR, nonreciprocal: deletions or duplications are not mediated by nonallelic homologous recombination, so recurrent reciprocal rearrangements are not reported here; PW/AS, Prader-Willi/Angelman syndrome; RCAD, renal cysts and diabetes; TAR, thrombocytopenia/absent radius; WBS, Williams–Beuren syndrome.
Includes case(s) classified as complex; additional abnormalities were present.
Includes case(s) with unbalanced translocations.