Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review

Table 2 Description of deleted genomic regions of patients with 1p36 monosomy and Duane retraction syndrome

Patients	Chromosomal Region	Initial nucleotide	Final nucleotide	DRS
Present patient	1p36.31p36.21	5,414,227	12,632,782	Yes
Neal et al. [6]	1pter–p36.22	1	9,600,000	Yes
Shimada et al. [15] (Patient 46)	1pter–p36.22	1	10,001,011	Possible^a

HES3 gene located in chr1: 6,244,179–6,245,578
DRS Duane retraction syndrome
^aOculomotor disturbance; Distal critical region (classical) 1pter–p36.31 = 1–6,289,973 [13, 14]; Proximal critical region 1p36.23–p36.22 = 8,395,179–11,362,893 [5, 14]

ISSN: 1755-8166