Case Reports in Genetics

Case Report

Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion

Table 1

Summary of phenotypic features.
 Our PatientCase 1 [9]Case 2 [9]Case 3 [9]Case 4 [9]Case 5 [9]Case 6 [9]Case 7 [9]Case 8 [9]Case 9 [11]Case 10 [7]Case 11 [7]Case 12 [7]Case 13 [4]Case 14 [5]Case 15 [12]Case 16 [6]Case 17 [6]Case 18 [8]Case 19 [3]
Structural eye anomalyColobomata microphthalmos-------------------
Visual defectExotropia cataractMyopia-Myopia-MyopiaMyopia-MyopiaMyopiaMyopiaMyopia High myopia   Severe amblyopia and hyperopia Exotropia
Dysmorphic features-+++++++++++++++++++
Cardiac anomaly-+--++-++-++++-++-+-
Genital anomaly-++-----+---+----+-+
Hypotonia-+---+---+++++--+---
Renal anomaly-+------+---+---+---
MSK anomaly-++-++--++-+-++++++-
Neuro-anomaly-----++----+---++-++
GIT anomaly------+---+---------
Hearing impairment--+-+----+------+-+-
IUGR--+--+--+--------+--
Feeding issues-------+------++----
Developmental delay+-++--+--+++++++-+++
Behavioural issues----+---------+----+
Intellectual impairment----+----++--++--+++
Deletion size and breakpointarr[GRCh37] 19p13.3
(4399876_
4933228)x1		0.81 Mb
Arr cgh 19p13.3
(217145–
1027368)
x1.ish
Del(19)
(p13.3p13.3)
(RP11-575H1-)pat		0.73 Mb
Arr cgh 19p13.3
(217117–
950391)
x1.ish
Del(19)
(p13.3p13.3)
(RP11-575H1-)mat		0.73 Mb
Arr cgh 19p13.3
(217117–
950391)
x1.ish
Del(19)
(p13.3p13.3)
(RP11-575H1-)mat		0.73 Mb
Arr cgh 19p13.3
(217117–
950391)
x1.ish
Del(19)
(p13.3p13.3)
(RP11-575H1-)mat		0.86 Mb
arr cgh 19p13.3
(217117–
1083955)
x1.ish
del(19
(p13.3p13.3)
(RP11-575H1-)		0.82 Mb
Arr cgh 19p13.3
(217146-
1045590)
x1.ish
Del(19)
(p13.3p13.3)
(RP11-575H1-)		0.13 Mb
Arr cgh 19p13.3
(217117–
353272)x1		0.65 Mb
Arr cgh 19p13.3
(736690–
1395289)
x1.ish
Del(19)
(p13.3p13.3)
(RP11-878J15-)		610 kb
Arr cgh 19p13.3
(686,663–
1,297,499)		1 Mb
Arr 19p13.3
(3,143,283–
4,149,860)		880 kb
Arr 19p13.3
(3,256,944–
4,136,989)		792 kb
Arr 19p13.3
(3,814,392–
4,605,977)		1.1 Mb
Arr chr19
(213,080–
1,322,552)		1.7 MB
Arr chr19
(3,870,103–
4,044,035)		1.612 Mb
Arr 19p13.3
(1,890,631–
1,932,579)		1.25 Mb
Arr 19p13.3
(3.325–
4.578 Mb)		0.81 Mb
Arr 19p13.3
(39.27–
45.78 Mb)		5 Mb
Arr chr19p13.3
(1,103,412–
1,253,309)		710 kb
Arr chr
(1,118,914–1,120,329)
with a
further
centromeric deletion
(1,829,934-1,837,061)