Partial 16q trisomy region | Prx. D. 16q11.1-q13 | Prx. D. 16q11.2-q12.2 | Prx. D. 16q11.2-q12.1 | Prx. D. 16q11.2-q13 | Prx.D. 16q 12.1-q13 | Prx-Inter. D. 16q11.2-q22.1 | Prx-Inter. D. 16q11.2-q22.3 | Prx-Inter. D. 16q12.1-q21 | Prx-Inter. D. 16q13-q22.3 | Prx-Inter. D. 16q12.1-q22.1 | Inter-Dis. D. 16q22.1-q23.1 | Inter-Dis. D. 16q13-q24 | Prx-Dis. D. 16q12.1-q23.3 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Methodology for genetic analysis | Conv. Cyto./ FISH | Conv. Cyto./ FISH | Conv. Cyto./ FISH | Conv. Cyto./ FISH | Conv. Cyto./ FISH | SNP-aCHG (45,086,927- 71,261,259) 26.17 Mb | Oligonu-cleotide aCGH 22.5 Mb | Oligonucleo-tide aCGH (50,843,158-60,770,795) 9.92 Mb | Conv. Cyto. | aCGH 19.8 Mb | Conv. Cyto./ FISH | Conv. Cyto. | aCGH (52,459,169- 82,285,105) 29.8 Mb |
References | [5] | [6] | [6] | [6] | [7] | [1] | [8] | [2] | [9] | [3] | [10] | [11] | this study |
Gender | F | M | M;M;M;M | M;M;F | M | F | F | F | F | F | M | F | F |
Age (years) | 3 | 5 | 5.3;3;32;32 | 9.5;5;39 | NR | 2 | 5 | 3.5 | 26 | 7 | 10 | 0 | 0 |
Growth retardation | [–] | [–] | NR | 2/3 | NR | [–] | [–] | [–] | [+] | [+] | [+] | NR | [+] |
Intellectual disability | [+] | [+] | 3/2 | 3/3 | RN | [+] | [+] | [+] | [+] | [+] | [+] | NR | [+] |
Micro-cephaly | [–] | NR | NR | [–] | NR | [–] | [+] | [–] | [–] | [–] | [–] | NR | [+] |
Behavioral problems | [+] | [+] | NR | 2/3 | NR | NR | [+] | [+] | [+] | NR | [+] | NR | NR |
Epilepsy | [-] | NR | NR | NR | NR | [–] | [–] | [–] | NR | [+] | [+] | NR | [–] |
Speech delay | [+] | [+] | 2/4 | 2/3 | NR | [+] | [–] | [+] | [+] | NR | [+] | NR | [+] |
Obesity | [-] | [+] | NR | 3/3 | NR | [–] | [+] | [+] | NR | NR | NR | NR | [–] |
Dysmorphic features | [+] | [+] | NR | [–] | NR | [+] | [+] | [+] | [+] | [+] | NR | [+] | [+] |
Ear anomalies | [+] | NR | NR | NR | NR | [+] | NR | [+] | [–] | [–] | [+] | NR | [+] |
Eye anomalies | [-] | [+] | NR | 2/3 | NR | [+] | [+] | [+] | [–] | [+] | [–] | NR | [+] |
Skeletal anomalies | [+] | [+] | NR | 3/3 | NR | [+] | [–] | [+] | [+] | NR | [+] | [+] | [–] |
Heart defects | [-] | [+] | [–] | [–] | NR | [+] | [–] | [–] | NR | [–] | [–] | [+] | [–] |
Urogenital anomalies | [-] | NR | NR | NR | NR | [–] | [–] | [–] | NR | [–] | [–] | [+] | [–] |
CNV anomalies | [-] | NR | NR | NR | NR | [–] | [–] | [–] | NR | [+] | [+] | NR | [–] |