Table 1.
Clinical and cytogenetic data in patients with “pure” 15q26 deletion CHD
| Clinical findings | Our case | Dateki 2011 [11] | Poot 2007 [10] | Tönnies 2001 [12] | Nakamua 2011 [4] | Slavotinek 2006 [6] | Hengstschlagr 2004 [13] | Bhakta 2005 [14] | Rump 2008 [15] | Choi 2011 [16] | Chui 2015 [17] | Biggio 2004 [18] | Okubo 2003 [19] | O’Riordan 2016 (38) | Iopez 2006 (39) | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient 1 | Patient 2 | |||||||||||||||
| Age | 4y | 13y 9 m | 8y 6 m | 19 m | 33 weeks | newoborn | newoborn | newborn | newborn | 6 m | 2 y | 3 y | newborn | 10 y | newborn | fetus/19 wg |
| Gender | F | F | F | F | F | F | F | F | F | M | M | F | F | F | M | F |
| Position of 15q26 deletion | 15q26.1qter | 15q26.2qter | 15q26.2qter | 15q26.1 | 15q26.2 | 15q26.2 | 15q26.2 | 15q26.1qter | 15q26.1qter | 15q26.2qter | 15q26.2qter | 15q26.2qter | 15q26.1qter | 15q26.1qter | 15q26.2qter | 15q26.1qter |
| Deletion size | 9,15 Mb | 5 Mb | 6,87 Mb | NA | 5,78 Mb | NA | NA | NA | NA | 5.8 Mb | 8.58 Mb | NA | NA | NA | 6.554 Mb | NA |
| Origin | De novo | De novo | De novo | De novo | NA | De novo | NA | De novo | NA | De novo | NA | NA | NA | De novo | De novo | De novo |
| IUGR | + | – | + | + | + | NA | NA | + | + | – | + | NA | – | + | NA | + |
| Microcephaly | + | – | + | + | + | + | + | – | + | + | + | + | NA | + | + | NA |
| Failure to thrive | + | + | + | + | + | + | + | + | + | + | + | + | NA | + | + | NA |
| Pschycomotor delay | + | NA | + | + | + | NA | NA | NA | + | + | NA | + | NA | + | + | NA |
| Intellectual disability | + | + | – | NA | NA | NA | NA | NA | NA | + | NA | NA | NA | NA | NA | NA |
| Facial dysmorphic features | + | – | + | + | + | – | + | + | + | + | + | + | + | + | + | NA |
| Broad nasal bridge | + | – | – | + | NA | NA | + | NA | + | + | – | – | + | – | NA | NA |
| Micrognathia | + | – | + | + | + | NA | + | NA | NA | – | – | + | + | – | NA | NA |
| Ear anomaly | + | – | – | + | + | – | + | + | + | + | – | – | + | – | – | NA |
| Eye anomaly | + | – | + | – | NA | NA | NA | NA | NA | + | + | + | NA | + | NA | NA |
| Cardiac defect | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | |
| Hypoplastic heart | – | – | – | – | – | + | – | – | – | – | – | + | – | – | – | – |
| Enlarged heart | + | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – |
| Cardiac shunt | + | – | – | – | – | – | – | – | – | + | – | – | – | – | – | – |
| Aortic arch anomaly | – | – | – | + | – | + | + | + | + | – | + | – | + | – | + | – |
| Ventricular septal defect | – | + | – | + | + | + | + | + | + | – | – | – | – | + | – | – |
| Patent ductus arteriosus | – | – | – | + | – | – | + | – | + | – | – | – | – | – | – | – |
| Atrial septal defect | + | – | + | + | + | – | + | – | – | + | + | – | – | + | – | – |
| Valvular defect | – | – | + | – | – | + | + | – | + | – | – | – | + | – | – | – |
| Lung hypoplasia | – | – | – | – | – | + | + | – | + | – | – | – | + | – | – | – |
| Diaphragmatic hernia | – | – | – | – | – | + | + | + | – | – | – | – | + | – | – | + |
| Kidney anomalies | – | – | – | + | + | – | + | + | + | – | + | + | – | – | – | – |
| Skeletal anomalies | + | – | + | – | + | + | + | + | + | + | + | + | + | + | + | + |
| Clinodactyly | + | – | + | – | – | – | – | – | + | – | + | + | + | + | – | – |
| Foot deformity | + | – | – | – | – | + | – | + | + | + | – | – | – | + | – | – |