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Table 1 Clinical findings in six patients with recurrent 8q13.2-13.3 deletion

From: Recurrent 8q13.2-13.3 microdeletions associated with Branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks

   Case 1 in this study Case 2 in this study Patient 1* 21230** 20960** 518240**
Major BOR criteria Hearing loss/impairment + NA + - + +
  Branchial fistulae + NA + + + +
  Preauricular pits + NA + + - +
  Hydronephrosis/kidney agenesis + NA + + - +
Minor BOR criteria Ear anomalies or ear symptoms (cup ear, low-set ear, asymmetry ear) + + + + + -
Dysmorphic facial features   High arched palate Macrocephaly, high arched palate, short neck, wide spaced eyes, and flat occiput Left-sided microphthalmos with iris coloboma Small mouth, branchial tag - -
Non-BOR related abnormalities Intellectual disability/developmental delay - NA + - - -
  Speech/language delay + NA + - - -
  Short stature - Proportional short stature Proportional short stature - - -
  1. Only patient with detailed clinical information was recruited; +: present; −: absent; NA: not available in the medical record; *Reported by Sanchez-Valle et al.; **Three patients reported by Brophy PD et al., one patient’s (CDS2893) clinical information wasn’t available.
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