Table 2.
The genotype and phenotype of 29 patients with pure partial trisomy 16q
| Serial number | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 |
| Coordinates (GRCh37, Hg19) | 46385802_59342499 | 46441545_62089933 | 46464489_49514582 | 46500511_55797192 | 46500741_63537111 | 46505617_54206543 | 46507694_56598191 | 46564557_53360707 | 48242500_59342499 | 57653652_60696431 | 62213235_76769398 | 74915119_76001300 | 75495683_79327457 | 76542500_90294753 | 82184809_83663330 |
| Size | 12.93Mb | 15.65Mb | 3.05Mb | 9.30Mb | 17.04Mb | 7.70Mb | 10.09Mb | 6.80Mb | 11.10Mb | 3.04MB | 14.56Mb | 1.09Mb | 3.83Mb | 13.72Mb | 1.48Mb |
| Regions | 16q11.2q21 | 16q11.2q21 | 16q11.2q12.1 | 16q11.2q12.2 | 16q11.2q21 | 16q11.2q12.2 | 16q11.2q12.2 | 16q11.2q12.2 | 16q12.1q21 | 16q21 | 16q21q23.1 | 16q23.1 | 16q23.1q23.2 | 16q23.1q24.3 | 16q23.3 |
| Abnormal facial shape | + | + | - | - | - | - | + | NA | + | + | + | + | NA | + | NA |
| GDD / ID | + | + | + | - | + | + | NA | + | - | + | + | + | NA | NA | NA |
| Growth abnormality | + | + | - | - | - | - | - | + | + | NA | - | - | NA | NA | NA |
| Behavior problems | |||||||||||||||
| Aggressive | + | - | - | - | + | - | NA | - | - | - | - | NA | NA | - | |
| Hyperactivity | + | - | + | - | - | + | - | NA | - | - | - | - | NA | NA | - |
| Autistic | - | - | - | + | - | - | NA | - | - | - | - | NA | NA | + | |
| Others malformation | |||||||||||||||
| Limbs / musculoskeletal | + | + | - | - | NA | - | - | NA | + | - | + | - | NA | + | NA |
| Hypotonia | + | - | - | - | NA | - | - | NA | - | - | - | - | NA | + | NA |
| Hemiplegia | + | - | - | - | NA | - | - | NA | - | - | - | - | NA | - | NA |
| Cardiovascular | - | + | + | + | NA | - | - | NA | - | - | - | - | NA | - | NA |
| Digestive | NA | + | - | - | NA | - | - | NA | - | - | - | - | NA | - | NA |
| Eye | NA | + | NA | - | NA | - | + | NA | + | - | - | NA | - | NA | |
| Hearing / Dysplastic | - | - | - | - | + | NA | - | - | - | - | NA | - | NA | ||
| Genitourinary | NA | + | NA | - | NA | - | - | NA | - | - | - | - | NA | - | NA |
| Integument | NA | + | NA | - | NA | - | - | NA | - | - | - | - | NA | - | NA |
| Endocrine | NA | - | NA | + | NA | - | - | NA | - | - | - | - | NA | - | NA |
| Macrocephaly | NA | - | NA | + | - | - | + | NA | - | - | - | - | NA | - | NA |
| Craniosynostosis | NA | - | NA | - | + | - | + | NA | - | - | - | - | NA | - | NA |
| Dental structure | NA | - | NA | - | - | + | - | NA | - | + | - | - | NA | - | NA |
| Obesity | NA | - | NA | - | - | - | + | NA | - | - | - | - | NA | - | NA |
| Premature birth | NA | - | NA | - | - | - | - | NA | - | - | - | - | NA | + | NA |
| EEG / Seizure | NA | - | NA | - | - | - | - | NA | + | - | - | - | NA | - | NA |
| Recurrent infections | NA | - | NA | - | - | - | - | NA | - | - | - | - | NA | - | NA |
| References | 398404 | 362109 | 401294 | 331371 | 368652 | 318880 | 402493 | 409580 | 400834 | 294549 | 389723 | 353771 | 411850 | 394920 | 369851 |
| Serial number | 16 | 17 | 18 | 19 | 20 | 21 | 22 | 23 | 24 | 25 | 26 | 27 | Serial number | 28 | 29 |
| Coordinates (GRCh37, Hg19) | 84341219_90111263 | 85342500_90294753 | 86106889_87595215 | 87502161_89688617 | 88755341_89897010 | 48799549_70756330 | 50843158_60770795 | 52459169_82285105 | 62586414_84885185 | 84730437_85477564; 85483466_88647238 | NA | 74005024_84546108 | coordinates (GRCh38, Hg38) | 46450037_63178736 | 77045569_79687003 |
| Size | 5.77Mb | 4.95Mb | 1.49Mb | 2.19Mb | 1.14Mb | 21.96Mb | 9.92 Mb | 29.8Mb | 22.3Mb | 747Kb;3.30Mb | 33.5Mb | 10.5 Mb | Size | 16.73 Mb | 2.64Mb |
| Regions | 16q24.1q24.3 | 16q24.1q24.3 | 16q24.1q24.2 | 16q24.2q24.3 | 16q24.3 | 16q12.1q22.1 | 16q12.1q21 | 16q12.1q23.3 | 16q21q24.1 | 16q24.1-q24.3. | 16q12.2q24.3 | 16q22.3q24.1 | Regions | 16q11.2q21 | 16q23.1q23.2 |
| Abnormal facial shape | NA | + | NA | + | NA | + | + | + | + | + | + | + | Abnormal facial shape | NA | NA |
| GDD / ID | NA | NA | NA | + | NA | + | + | + | + | + | + | + | GDD / ID | NA | NA |
| Growth abnormality | NA | NA | NA | - | NA | + | - | + | - | + | + | - | Growth abnormality | NA | NA |
| Behavior problems | Behavior problems | ||||||||||||||
| Aggressive | NA | - | NA | NA | NA | - | + | NA | - | NA | NA | - | Aggressive | NA | NA |
| Hyperactivity | NA | - | NA | NA | NA | - | - | NA | - | NA | NA | - | Hyperactivity | NA | NA |
| Autistic | NA | - | NA | NA | NA | - | - | NA | - | NA | NA | - | Autistic | NA | NA |
| Others malformation | Others Malformation | ||||||||||||||
| Limbs / musculoskeletal | - | + | NA | NA | NA | + | - | + | + | + | - | Limbs / musculoskeletal | NA | NA | |
| Hypotonia | - | - | NA | NA | NA | - | + | - | - | - | - | Hypotonia | NA | NA | |
| Hemiplegia | - | - | NA | NA | NA | - | - | - | - | - | - | Hemiplegia | NA | NA | |
| Cardiovascular | - | + | NA | NA | NA | - | - | + | + | + | - | Cardiovascular | NA | NA | |
| Digestive | - | + | NA | NA | NA | - | - | + | + | - | - | Digestive | NA | NA | |
| Eye | - | - | NA | NA | NA | - | + | - | + | - | Eye | NA | NA | ||
| Hearing / Dysplastic | - | + | NA | NA | NA | + | + | + | + | + | - | - | Hearing / Dysplastic | NA | NA |
| Genitourinary | - | + | NA | NA | NA | - | - | + | + | + | - | Genitourinary | NA | NA | |
| Integument | - | + | NA | NA | NA | - | - | - | - | - | - | Integument | NA | NA | |
| Endocrine | - | - | NA | NA | NA | - | - | + | - | - | - | Endocrine | NA | NA | |
| Macrocephaly | - | - | NA | NA | NA | - | - | - | - | - | - | Macrocephaly | NA | NA | |
| Craniosynostosis | - | - | NA | NA | NA | - | - | - | - | - | - | Craniosynostosis | NA | NA | |
| Dental structure | - | - | NA | NA | NA | - | - | - | - | - | Dental structure | NA | NA | ||
| Obesity | - | - | NA | NA | NA | + | - | - | - | - | + | Obesity | NA | NA | |
| Premature birth | - | - | NA | NA | NA | - | + | - | - | + | + | Premature birth | NA | NA | |
| EEG / Seizure | + | - | NA | NA | NA | - | - | - | + | - | - | - | EEG / Seizure | NA | NA |
| Recurrent infections | - | - | NA | NA | NA | + | + | - | - | - | - | - | Recurrent infections | NA | NA |
| References | 322843 | 392985 | 351615 | 363274 | 300593 | This study | [11] | [12] | [13] | [14] | [15] | [16] | References | 472243 | 472847 |
EEG Electroencephalogram, GDD global developmental delay, ID intellectual disability, NA not applicable, + present, – absent