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Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature Cover

Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature

Balkan Journal of Medical Genetics
Volume 24 (2021): Issue 2 (November 2021)
By: ,  ,  ,  ,  ,  ,   and    
Open Access
|Jun 2022
Figures & tables

Figures & Tables

Table 1

Clinical data of the patients and reviewed cases.

Pat. no.Sex, ageDeletion size / coordinatesPrenatalPostnatalRelative with possibly related clinical phenotypeRef
Urinary systemDHOther anomaliesAmniotic fluidUrinary systemLBW/Growth delayRespiratoryDigestiveCardiovascularNeurologicalMuscularBoneGenitalFacial dysmorphismOther
1.Fetus#
n/a		1.42 Mb
34,822,465–36,243,365 (hg19)		HN---------------9
2.Fetus
n/a		1.48 Mb
34,832,294–36,316,144 (hg19)		Left MCDK--------------C13
3.Fetus#
n/a		1.58 Mb
34,822,465–36,404,104 (hg19)		bDK---------------9
4.Fetus
n/a		1.58 Mb
34,822,465–36,404,104 (hg19)		Right MCDK--------------C13
5.Fetus#
n/a		1.59 Mb
34,822,456–36,410,720 (hg19)		bHK---------------14
6.Fetus#
n/a		1.74 Mb
31,836,750–33,582,750 (hg17)
[34,762,637–36,252,627 (hg19)]		bMDK UTA---------------1
7.Fetus#
17 weeks		1.32 Mb
34,851,537–36,168,104(hg19)		UTA-+-------------Patient B current study
8.Fetus, male#
18 wks
brother of P49		1.75 Mb
34,653,178–36,402,867 mat (hg19)		bHK, bHN, UTA (18 wks)
MK, HN, UTA (21 wks)		--------------+ C15
9.Fetus, female§
19 wks		1.39 Mb
31,890,483–33,281,801 (hg18)
[34,816,370–36,207,688 (hg19)]		bHK (at 19 wks)
bhK, MCK (at 25 wks)		++-------------16
10.Fetus#
22 weeks		1.57 Mb
34,815,551–36,383,538 (hg19)		bHK (22 weeks)---------------17
11.Fetus, male#
22 wk
son of P79, brother of P25		n/a
n/a, pat		bHK, bDK, one cyst-+------------+ C7
12.Fetus#
22 wks		1.58 Mb
34,822,465–36,404,136 (hg19)		HK, MDK-----‘----------18
13.Fetus
22 wks		1.58 Mb
34,822,492–36,404,104 (hg19)		HK, bHN-----‘----------18
14.Fetus#
23 wks		1.60 Mb
34,822,465–36,418,529 (hg19)		HK, bDK-----‘----------18
15.Fetus
23 wks		1.94 Mb
34,475,679–36,410,720 (hg19)		HK, left MCDK---------------18
16.Fetus#
24 weeks		1.35 Mb
34,817,422–36,168,104 (hg19)		MDK---------------Patient A current study
17.Fetus
24 wks
offspring of P80		1.42 Mb
34,822,465–36,244,332 (hg19)		HK, MDK--------------+ C18
18.Fetus
24 wks		1.42 Mb
34,822,465–36,243,365 (hg19)		HK--PHA------------18
19.Fetus
24 wks		1.49 Mb
34,822,465–36,307,773 (hg19)		left HK, right MCDK---------------18
20.Fetus#
24 wks		1.60 Mb
34,822,465–36,418,529 (hg19)		bMCDK, bilateral cystic adenomatoid malformation-+AHA------------18
21.Fetus
25 wks		1,49 Mb
34,822,465–36,316,144 (hg19)		HK--PHA------------18
22.Fetus
26 wks		1.58 Mb
34,822,465–36,404,555 (hg19)		HMDK---------------18
23.Fetus, male#
32 wks		1.93 Mb
34,477,479–36,404,104 (hg19)		bHMDK-+PHA------------19
24.Fetus#
32 wks		1.93 Mb
34,477,479–36,404,104 (hg19)		bHMDK--PHA------------18
25.Fetus, female#
34 wks
daughter of P79,
sister of P11		n/a
n/a, pat		bHK--------------+7
26.n/a§
n/a		1.58 Mb
34,822,465–36,404,555 (hg19)		HK------+--------9
27.Male
1 m.o.
son of P83		n/a
n/a, mat		--+OHAbMCK+---------+ C7
28.Female
4 m.o.		1.49 Mb
34,822,465–36,311,009 (hg19)		HK++PHA--+++-------20
29.Male
4 m.o.		1.43 Mb
31,889,297–33,323,037 (hg18)
[34,815,184–36,248,924 (hg19)]		MK--OHAMK+--+--++---2
30.Male
5 m.o.
twin of P31		1.59 Mb
34,822,465–36,418,529 pat (hg19)		bHK
mild renal PCD		++PHAHMK
PCD
AF		+---------+ C20
31.Male
5 m.o.
twin of P30		1.59 Mb
34,822,465–36,418,529 pat (hg19)		bHK
mild renal PCD		---bHMK
AF		+---------+ C20
32.n/a
7 m.o.		1.48 Mb
34,822,465, 36,307,773 (hg19)		RPS---------------9
33.Male
7 m.o.
son of P76		1.69 Mb
31,635,490–33,323,002 mat (hg18)
[34,611,377–36,248,889 mat (hg19)]		bMK-+-bMK+-+---+-+++ C4
34.Male
9 m.o.
son of P85		1.60 Mb
34,856,085–36,455,391 mat (hg19)		HK--PHAMK+---------+ C21
35.Male
1 y 9 m.o.
son of P88		1.38 Mb
31,893,783–33,277,865 mat (hg18)
[34,819,670–36,203,752 mat (hg19)]		---------+-----+ C12
36.Female
1 y 10 m.o.		1.38 Mb
31,893,783–33,277,865 (hg18)
[34,819,670–36,203,752 (hg19)]		---------+------12
37.n/a
2 y.o.		1.58 Mb
34,822,465–36,404,555 (hg19)		MCK---MDK+---+------9
38.Female
2 y.o.
daughter of P84		n/a
n/a, mat		---PHA-+-+-+--++++ C7
39.Male
2 yrs 6 m.o.
brother of P42		1.40 Mb
31,923,035–33,323,544 mat (hg18)
[34,848,922–36,249,431 mat (hg19)]		different size kidneys (30 wks)---bHMDK+---+-----+ C22
40.Male
3.5 y.o.		1,84 Mb
31,550,027–33,399,810 (hg18)
[34,525,914–36,307,186 (hg19)]		CK-------+------23
41.Male
3.8 y.o.		1,50 Mb
31,889,664–33,386,049 (hg18)
[34,815,551–36,295,000 (hg19)]		HK--------+------23
42.n/a
4 y.o.
sibling of P39		1.40 Mb
n/a pat		HK (33 weeks)---MK
(9 mo)		----+++---+ C17
43.n/a
4 y.o.		1.70 Mb
34,550,633–36,248,889 pat (hg19)		HK (23 weeks)---MK
(6 mo)		----+-----+ C17
44.Female
4 y.o.
twin of P45		1.57 Mb
34,815,551–36,383,538 (hg19)		HK---HMCK----+------17
45.Female
4 y.o.
twin of P44		1.57 Mb
34,815,551–36,383,538 (hg19)		HK---HMCK----+------17
46.Female
4 y.o.		1.79 Mb
34,629,683–36,424,950 pat (hg19)		absent left kidney-+PHAHMDK+-+-+---+-+ C24
47.Male
4 y.o.		1.38 Mb
31,893,783–33,277,865 (hg18)
[34,819,670–36,203,752 (hg19)]		---------+------12
48.Male
4 y.o.		2.07 Mb
31,635,490–33,708,909 (hg18)
[34,611,377–36,455,391 (hg19)]		MK---MK /HK+---++-+++-4
49.Female
5 y.o.◆
sister of P8		1.75 Mb
34,653,178–36,402,867 mat (hg19)		----bDK----------C15
50.Male
5 yrs. 6 m.o.		1.43 Mb
31,889,297–33,323,037 (hg18)
[34,815,184–36,248,924 (hg19)]		MDK---MDK
AF		+-----+----2
51.Male
5 yrs. 8 mo.		1.88 Mb
34,437,475–36,243,028 (hg19)		bHK (15 wks)
bMK (17 wks)		+--HMK
AF		-+++--+-+--25
52.Female
6 y.o.
sister of P60,
daughter of P89		n/a
n/a, mat		---------+---+-+ C7
53.Male
6 y.o.		n/a
n/a		----AG++--++---+-26
54.Female
7 y.o.
sibling of P34		1.40 Mb
31,923,035–33,323,544 mat (hg18)
[34,848,922–36,249,431 mat (hg19)]		---------+-----+ C22
55.Male
7 y.o.		n/a
n/a		----One cyst, partial duplicated collecting system+++++++-7
56.Male
7 y.o.		1.38 Mb
31,893,783–33,277,865 (hg18)
[34,819,670–36,203,752 (hg19)]		---------+------12
57.Male
7 yrs 5 mo		1.80 Mb
34,475,679–36,283,807(hg19)		HN (22 weeks)----+---+---+--Patient C current study
58.Male
8 y 8 m.o.		n/a
n/a		--+--+--++---+--27
59.Male
9 y.o.		1.83 Mb
31,543,857–33,371,626 (hg18)
[34,519,744–36,335,380 (hg19)]		HK, MCK, PY, HY---moderate renal failure--+-+------23
60.Female
10 y.o.
sister of P52,
daughter of P89		n/a
n/a, mat		-----+---+---+-+ C7
61.Male
10 y.o.		1.38 Mb
31,893,783–33,277,865 (hg18)
[34,819,670–36,203,752 (hg19)]		---------+------12
62.Male
10 y.o.
son of P82		1.78 Mb
34,468,470–36,248,889 mat (hg19)		bHMK---LK----+---+-+ C21
63.Female
12 y.o.		n/a
n/a		--+--+-+-+---+++27
64.Female
12 y.o.		1.73 Mb
31,593,883–33,323,002 (hg18)
[34,569,770–36,248,889 (hg19)]		bHMK---MK----+-----+4
65.Male
12 y.o.		1.38 Mb
31,893,783–33,277,865 (hg18)
[34,819,670–36,203,752 (hg19)]		---------+------12
66.Male
12 y.o.		1.43 Mb
34,816,255–36,244,358 (hg19)		---------+---+--5
67.Female
13 y.o.		1,43 Mb
31,889,297–33,323,037 (hg18)
[34,815,184–36,248,924 (hg19)]		MK----+---+-----+2
68.Female
14 y.o.		n/a
n/a		MCK--PHAleft AG----+----+-7
69.Male
15 y. 8 m.o.		1.42 Mb
n/a		----bMCK+---+---++-27
70.Male
17 y.o.		1.89 Mb
34,464,879–36,352,140 (hg19)		-----+--++-+--+-28
71.Female
18 y.o.		1.42 Mb
n/a		----bMCK---------O, D+27
72.Female
18 y.o.		1.50 Mb
n/a		----MCD--+-+------29
73.Female
19 y.o.		1.38 Mb
31,893,783–33,277,865 (hg18)
[34,819,670–36,203,752 (hg19)]		---------+------12
74.Female
20 y.o.		1,43 Mb
31,889,297–33,323,037 (hg18)
[34,815,184–36,248,924 (hg19)]		----DK
AG		----+----+-2
75.Male
20 y.o.		1.40 Mb
n/a		----UVJO--+-+----D, Mg↓-30
76.Female
22 y.o.
mother of P33		1.69 Mb
31,635,490–33,323,002 (hg18)
[34,611,377–36,248,889 (hg19)]		left MCDK---involution of left
MCDK		----------+4
77.Male
22 y.o.		1.38 Mb
31,893,783–33,277,865 (hg18)
[34,819,670–36,203,752 (hg19)]		---------+------12
78.Female
26 y.o.		1.58 Mb
34,790,209–36,373,398 (hg19)		MCK------+-+----D-31
79.Male
26 y.o.
father of P48, P50		n/a
n/a		----bHK+-+-+-+-+O+ C7
80.Female
28 y.o.
mother of P67		1.42 Mb
34,822,465–36,244,332 (hg19)		HK---bMCK----------+ C18
81.Female
28 y.o.		1.80 Mb
n/a		----bMCK, AF+-+-+-----+27
82.Female
29 y.o.
mother of P24		1.78 Mb
34,468,470–36,248,889 (hg19)		bHMK---one cyst----+---+-+ C21
83.Female
30 y.o.
mother of P56		n/a
n/a		---------+----D+ C7
84.Female
32 y.o.
mother of P46		n/a
n/a		----bHY, bNP--+-+-----+7
85.Female
32 y.o.
mother of P14		1.59 Mb
34,856,085–36,455,391 (hg19)		---PHAbMK--+------O, D+ C21
86.Female
35 y.o.		1.58 Mb
34,822,465–36,404,104 (hg19)		----MCK--+-----+++ C32
87.Female
36 y.o.		1.58 Mb
34,790,209–36,373,398 (hg19)		----MCK
kidney failure		--+-+---+D-31
88.Female
37 y.o.
mother of P87		1.38 Mb
31,893,783–33,277,865 (hg18)
[34,819,670–36,203,752 (hg19)]		---------+------12
89.Female
38 y.o.
mother of P53, P54		n/a
n/a		----HY----+-----+ C7
90.Male
43 y.o.		n/a
n/a		----HN, UPJO--+++-+--+
Mg↓		-33
91.Female
45 y.o.		n/a
n/a		----a/hypoplasia, AF---+--++-O, D-27
92.Male
62 y.o.		1,41 Mb
34,815,551–36,223,325 (hg19)		----bMCK---++-+--Mg↓, D+34
TOTAL1.32–2.07 Mb
Smallest deleted region:
34,851,537–36,168,104 (hg19)		56/92 (60.9%)4/92 (4.3%)12/92 (13.0%)14/92 (15.2%)32/75 (42.7%)23/75 (30.7%)4/75 (5.3%)18/75 (24%)8/75 (10.7%)49/75 (65.3%)3/75 (4%)11/75 (14.7%)4/75 (5.3%)18/75 (24%)21/75 (28%)34/75 (45.3%)
C: 28/75 (37.3%)

AF – affected renal function; AG – agenesia; AHA – anhydramnios; b – bilateral; C – genetically confirmed; D – diabetes; DD – developmental delay; DF – dysmorphic features; DH – diaphragmatic hernia; DK - dysplastic kidney; DM – diabetes mellitus; HK – hyperechogenic kidney; HMK – hyperechogenic multicystic kidney; HMDK – hyperechogenic multicystic dysplastic kidney; HMK – hyperechogenic multicystic kidney; HN – hydronephrosis; HY – renal hypoplasia; ID – intellectual disability; LBW – low birth weight; LK – lobulated kidney; LOFC – low occipitofrontal circumference; MCK – multicystic kidney; MDK - multicystic dysplastic kidney; NP – nephropathy; NT - nuchal fold thickness; O – ocular anomalies; OHA – oligohydramnios; PCD – pelvicalyceal dilatation; PD – pelvic dilatation; PHA – polyhydramnios; PY – pyelectasis; RPS – renal pelvis separation; UPJO – ureteropelvic junction obstruction; UTA – urinary tract anomalies; UVJO - ureterovesical junction obstruction;

# -pregnancy terminated;

§ - died after birth;

◆ - death at a later age.

Figure 1

Graphical representation of the reported and reviewed deletions in UCSC browser. Patient ID is indicated according to Table 1. The arrows point the patients described in the current study.

DOI: https://doi.org/10.2478/bjmg-2021-0025 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
Journal RSS Feed
Language: English
Page range: 71 - 82
Published on: Jun 5, 2022
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
17q12 microdeletion syndrome,
autism,
multicystic kidney,
ultrasound marker,
urinary tract anomalies
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2022 A Țuțulan-Cuniță, AG Pavel, L Dimos, M Nedelea, A Ursuleanu, AT Neacșu, M Budișteanu, D Stambouli, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Volume 24 (2021): Issue 2 (November 2021)
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