Table 2.
Summary of the neurological and cytogenetic features of published patients harboring a 14q23-q32 interstitial deletion
| Patient | Sex | Age | Region | Deletion size | Microcephaly | Cognitive delay | Motor delay | Hypotonia | Language delay | Seizures (age of onset; type) | EEG | Brain scan | Sensorineural Deafness | Other neurological findings |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1- Turleau et al., 1984 [1] (P1) | M | Died at 2y (cardiac failure?) | 14q23-q32 | NA | Yes (− 3 SD) | Yes Severe | Yes Severe | NR | Yes | No | Normal | NR | NR | NR |
| 2- Kawamura et al., 1985 [2] | M | 11ya | 14q24.3q32.1 | NA | Yes | Yes | Yes | NR | Yes | Single afebrile seizure at 11 ya | No epileptic anomaliesa | NR | NR | NR |
| 3- Yamamoto et al., 1986 [3] | M | 10mo – 12ya | 14q24.3-32.1 | NA | Yes (−1.7 SD) | Yes Mild | Yes Mild | NR | No languagea | NR | Normal | Mild generalized cortical atrophy (CT) | No (ABR) | NR |
| 4- Rivera et al., 1992 [4] (P1) | M | 1y 3mo | 14q24-q32 | NA | Yes (<3 %) | NR | Yes Mild | NR | No words at 15 mo | NR | NR | NR | NR | NR |
| 5- Byth et al. 1995 [5] (P1251) | F | NR | 14q23-q32 | 11.6 MB (76,822,337–88,488,190)b | No | Yes Mild | Yes Mild | NR | NR | NR | NR | NR | NR | NR |
| 6- Byth et al. 1995 [5] (P1141) | F | 5y | 14q24.1-q31 | NA | Yes | Yes | No | NR | NR | NR | NR | NR | NR | NR |
| 7- Ono et al., 1999 [6] | M | 2y | 14q24.3-q32.1 | NA | Yes (−2.7 SD) | NR | Yes | No | NR | Simple FS at 13mo; | Spikes in right O region | Frontal atrophy and delayed myelination (MRI) | NR | Non-epileptic myoclonic status at 18mo |
| 8- Le Meuer et al., 2005 [7] | M | Died at 6 mo (cardiac failure) | 14q23.3 ≈ 24.2q 31.1 | 13.9 Mb (67,736,534–81,673,589)b | No | Yes | Yes | Yes | NA | NR | Poor modulation | Mild enlargement of the ventricles and the pericerebral spaces (MRI) | Immature response (ABR) | Poor sucking and swallowing, abnormal ocular contact |
| 9- Schlade-Bartusiak et al., 2008 [8] (HSC23984) | F | 5y | 14q24-3q32.1 | 18.5 Mb (77,823,431–96,400,270)b | No | Yes Mild | Yes Mild-moderate | Yes | No language | 2y; Focal | T-O anomalies | Normal (MRI) | Moderate hearing loss within the 1000–4000 Hz frequency range (ABR) | NR |
| 10- Zollino et al., 2009 (P22) | F | 19y | 14q24.3q32.12 | 13.9 Mb (77,867,749–91,848,982)b | No | Yes | NR | Yes | Yes | No | NR | NR | NR | Motor stereotypies, aggressive during adolescence |
| 11- Zollino et al., 2009 (P25) | M | 18y | 14q24.3q32.13 | 20.9 Mb (73,942,355–94,914,188)b | Yes | Yes | NR | Yes | Yes | No | NR | NR | NR | Hyperactive, aggressive, hands flapping, echolalia |
| 12- Cingoz et al., 2011 | M | 10y | 14q24.3-q32.2 | 21.5 Mb (77,226,431–98,771,224)b | No | Yes | Yes | Yes | No language | NR | NR | NR | NR | NR |
| 13 – Riegel et al., 2014 [11] | M | 6y 9mo | 14q24.3-q31.3 | 13.1 Mb (76,822,337–88,488,190)b | No | Yes Mild | Yes Mild | Yes | Yes | NR | Normal | Small area of gliosis in cerebellar region (MRI) | No (ABR) | NR |
| 14- This report | M | 2y 1mo | 14q24.3-q31.1 | 5,5 Mb (73,939,850–79,446,043) | No | Yes Mild | Yes Mild | Yes | Yes | 9 mo; Focal | Spikes in bilateral C regions | Corpus callosum hypoplasia; enlargement of fronto-temporal sub-arachnoids spaces | No (ABR) | Paroxysmal non epileptic events |
List of abbreviations: M male, F female, y years, mo months, NA not applicable, NR not reported, SD standard deviation, CT computed tomography, MRI magnetic resonance imaging, ABR auditory brainstem response, T temporal, O occipital, C central
aAdditional information on these two patients were reported by Ono et al. [6] on the basis of personal communications by Kawamura and Yamamoto
bMinimal deletion and base pairs are taken from Riegel et al. [11]