Table 2.
Summary of the clinical features of cases described in the present work.
| Clinical feature | Patient N1 | Patient N2 | Patient N3 | Patient N4 | Patient N5 | Patient N6 | Patient N7 | Patient N8 | Patient N9 | Patient N10 | Patient N11 | Patient N12 | Patient N13 | Patient N14 | Patient N15 | Patient D1-DECIPHER 371078 | Number of patients (n = 16) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gender (M/F) | F | F | F | M | M | M | M | F | F | F | F | M | F | M | F | M | |
| Age at diagnosis | 7 years | 3 years | 6 months | 5 years | 6 years | 7 years | 13 years | 5 years | 13 | 13 | fœtus | 2 years | 7 years | 3 years | fœtus | 1 years | |
| ID | Yes | Yes | Yes | Yes | - | - | Yes | - | - | - | - | - | 5/16 | ||||
| DD | Yes | Yes | Yes | NA | NA | Speech delay | - | Sitting up at 10 months, walking at 19 months/ language delay | - | - | Sitting up at 10 months, Gait at 16 months/ language delay | Speech delay | - | 7/16 | |||
| ASD | - | - | Yes | - | - | - | - | - | - | Yes | Yes | Yes | 4/16 | ||||
| Schizophrenia | - | - | - | 0/16 | |||||||||||||
| Behavior | NA | NA | NA | NA | Anxiety disorder | - | Attention deficit | - | - | 2/16 | |||||||
| Cerebral defects | Agenesis of the corpus callosum | Microcephaly, cerebral lesion caused by fetal viral infection | Macrocephaly, SPC | Macrocephaly | - | Cystic dilatation of the Virchow-Robin spaces | T2/FLAIR subcortical WMH | Agenesis of the corpus callosum | 7/16 | ||||||||
| Prenatal | Yes | Yes | 2/16 | ||||||||||||||
| Growth delay | Yes | Yes | 2/16 | ||||||||||||||
| Dysmorphic features | - | - | - | - | Yes | Yes : Long face, relatively short forehead, arched eyebrows, synophrys, epicanthus, DPF, anteverted nostrils, long philtrum, thick lips, ogival palate, bifid uvula, long fingers, low posterior hairline | - | Yes : Long face, high frontal hairline, telecanthus, broad base and flattened tip of the nose, anteverted nostrils, short philtrum, thick upper lips, dysplastic ears, DPF, small square hands, marked fetal pads | - | - | - | - | - | Yes : turricephaly | 4/16 | ||
| Other clinical features | Hypotonia, CHD, asplenia | Obesity | Congenital malformations of the feet and hands | Obesity | 1st trimester MSM | Sensory Processing Disorder | Intra-uterine growth delay, fetal alcohol exposure | Increased NT (3.5 mm) | Bilateral 2–3 toe syndactyly |
| Clinical feature | P1 - [4] | P2 - [17] | P3 - [17] | P4 - [11] | P5 - [4] | P6 - [4] | P7 - [4] | P8 - [4] | P9 - [4] | P10 - [4] | P11 - [19] | P12 - [19] | P13 - [20] |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gender (M/F) | M | M | M | M | F | M | M | M | F | M | M | F | M |
| Age at diagnosis | 7 years | NA | NA | 5 years | 26 years | 3 years | Adult | 10 years | 6 years | 6 years | 44 years | 46 years | 18 years |
| ID | Yes | Yes | Yes | Yes | Yes | Yes | Yes | ||||||
| DD | Yes | Yes | Yes | Yes | Yes | Yes | Yes | ||||||
| ASD | Yes | Yes | Yes | Yes | Yes | - | - | - | - | - | - | - | |
| Schizophrenia | - | - | - | - | - | Yes | Yes | Yes | |||||
| Behavior | Aggressiveness | ADHD, aggressiveness | hyperactive, mood disorder, aggressiveness | hyperactive, mood disorder, aggressiveness | hyperactive, mood disorder, aggressiveness | ||||||||
| Cerebral defects | Microcephaly | Tonic-clonic seizures. On MRI: glioma, a low-grade astrocytoma | Microcephaly | Microcephaly | |||||||||
| Prenatal | |||||||||||||
| Growth delay | |||||||||||||
| Dysmorphic features | - | - | - | - | Yes : thick lips, everted lower lip, high-arched palate, small hands | Yes : epicanthus, thick and everted lower lip, full cheeks, Sparse lateral eyebrows, micrognathia, clinodactyly | Yes : coarse facial features | Yes : bulbous nasal tip, wide mouth, overfolded helix | Yes : bulbous nasal tip, wide mouth, overfolded helix | Yes : brachycephaly | - | - | - |
| Other clinical features | Mild strabismus | Obesity | Obesity, sleep problems, genu valgum, strabismus | Sleep disorders | Obesity | Obesity, pectus excavatum, macroglossia, strabismus | Inguinal hernia, hyperlaxity, strabismus |
| Clinical feature | P14 - [20] | P15 - [21] | P16 - [21] | P17 - [14] | P18 - [14] | P19 - [14] | P20 - [19] | P21 - [19] | P22 - [18] | P23 - [12] | P24 - [12] | P25 - [12] | P26 - [15] | P27 - [13] | Total patients (n = 43) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gender (M/F) | M | NA | NA | NA | NA | NA | M | M | NA | NA | NA | NA | NA | NA | |
| Age at diagnosis | 20 years | NA | NA | NA | NA | NA | 41 years | 72 years | NA | NA | NA | NA | NA | NA | |
| ID | - | - | - | - | - | - | - | 12/43 | |||||||
| DD | - | - | - | - | - | - | - | 14/43 | |||||||
| ASD | Yes | - | - | - | - | - | - | - | 10/43 | ||||||
| Schizophrenia | Yes | Yes | Yes | Yes | Yes | Yes | Yes | - | - | - | - | - | - | - | 10/43 |
| Behavior | 7/43 | ||||||||||||||
| Cerebral defects | 11/43 | ||||||||||||||
| Prenatal | 2/43 | ||||||||||||||
| Growth delay | 2/43 | ||||||||||||||
| Dysmorphic features | - | - | - | - | - | - | - | NA | NA | NA | NA | NA | NA | NA | 10/43 |
| Other clinical features | Asperger syndrome | No neuro-psychiatric phenotype | No neuro-psychiatric phenotype | No neuro-psychiatric phenotype | No neuro-psychiatric phenotype | No neuro-psychiatric phenotype | No neuro-psychiatric phenotype | No neuro-psychiatric phenotype |
ADHD attention deficit hyperactivity disorder, ASD autism spectrum disorder, CHD congenital heart defect, DD developmental delay, DPF downslanting palpebral fissures, ID intellectual disability, MSM maternal serum markers, MRI magnetic resonance imaging, NA not available, NT nuchal translucency, SPC septum pellucidum cyst, WMH white matter hyperintensity.