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Table 2 Summary of the neurological and cytogenetic features of published patients harboring a 14q23-q32 interstitial deletion

From: Neurological features of 14q24-q32 interstitial deletion: report of a new case

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
  1. 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
  2. aAdditional information on these two patients were reported by Ono et al. [6] on the basis of personal communications by Kawamura and Yamamoto
  3. bMinimal deletion and base pairs are taken from Riegel et al. [11]