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Erschienen in:
29.05.2017 | Scientific Letter
Clinical Features in Patients with Microdeletion at 6q14.1-q15
Erschienen in: Indian Journal of Pediatrics | Ausgabe 11/2017
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To the Editor: Interstitial deletion of 6q is a rare genomic disorder, which may present with variable clinical features [1, 2]. We report here an eight-year-old girl with a microdeletion at 6q14.1-q15. The patient presented to our clinic for developmental delay for 8 y and stereotyped movements for 3 mo. In the recent 3 mo, she presented with paroxysmal attack of spontaneous hand scratching and grabbing, with bite-like action (Fig. 1a), and spontaneous laugh or heavy sweating, sometimes lasting for several minutes. These stereotyped movements occured 3–10 times every day.
Fig. 1
Photograph of the current case showing her spontaneous hand scratching and grabbing and bite-like action (a). Idiogram of chromosome 6 displaying the deletions or overlap with 6q14.1-q15 in case 1, 2, 3, current case and patient 4070 reported in DECIPHER (b) [Genes located at 6q14.1q15 in the current patient were searched on UCSC Genome Browser on Human Mar. 2013 (GRCh38/hg38) Assembly]
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