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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.