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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:
Open Access
|Jun 2022

Figures & Tables

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.
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.

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/a1.42 Mb34,822,465–36,243,365 (hg19)HN---------------9
2.Fetusn/a1.48 Mb34,832,294–36,316,144 (hg19)Left MCDK--------------C13
3.Fetus#n/a1.58 Mb34,822,465–36,404,104 (hg19)bDK---------------9
4.Fetusn/a1.58 Mb34,822,465–36,404,104 (hg19)Right MCDK--------------C13
5.Fetus#n/a1.59 Mb34,822,456–36,410,720 (hg19)bHK---------------14
6.Fetus#n/a1.74 Mb31,836,750–33,582,750 (hg17)[34,762,637–36,252,627 (hg19)]bMDK UTA---------------1
7.Fetus#17 weeks1.32 Mb34,851,537–36,168,104(hg19)UTA-+-------------Patient B current study
8.Fetus, male#18 wksbrother of P491.75 Mb34,653,178–36,402,867 mat (hg19)bHK, bHN, UTA (18 wks)MK, HN, UTA (21 wks)--------------+ C15
9.Fetus, female§19 wks1.39 Mb31,890,483–33,281,801 (hg18)[34,816,370–36,207,688 (hg19)]bHK (at 19 wks)bhK, MCK (at 25 wks)++-------------16
10.Fetus#22 weeks1.57 Mb34,815,551–36,383,538 (hg19)bHK (22 weeks)---------------17
11.Fetus, male#22 wkson of P79, brother of P25n/an/a, patbHK, bDK, one cyst-+------------+ C7
12.Fetus#22 wks1.58 Mb34,822,465–36,404,136 (hg19)HK, MDK-----‘----------18
13.Fetus22 wks1.58 Mb34,822,492–36,404,104 (hg19)HK, bHN-----‘----------18
14.Fetus#23 wks1.60 Mb34,822,465–36,418,529 (hg19)HK, bDK-----‘----------18
15.Fetus23 wks1.94 Mb34,475,679–36,410,720 (hg19)HK, left MCDK---------------18
16.Fetus#24 weeks1.35 Mb34,817,422–36,168,104 (hg19)MDK---------------Patient A current study
17.Fetus24 wksoffspring of P801.42 Mb34,822,465–36,244,332 (hg19)HK, MDK--------------+ C18
18.Fetus24 wks1.42 Mb34,822,465–36,243,365 (hg19)HK--PHA------------18
19.Fetus24 wks1.49 Mb34,822,465–36,307,773 (hg19)left HK, right MCDK---------------18
20.Fetus#24 wks1.60 Mb34,822,465–36,418,529 (hg19)bMCDK, bilateral cystic adenomatoid malformation-+AHA------------18
21.Fetus25 wks1,49 Mb34,822,465–36,316,144 (hg19)HK--PHA------------18
22.Fetus26 wks1.58 Mb34,822,465–36,404,555 (hg19)HMDK---------------18
23.Fetus, male#32 wks1.93 Mb34,477,479–36,404,104 (hg19)bHMDK-+PHA------------19
24.Fetus#32 wks1.93 Mb34,477,479–36,404,104 (hg19)bHMDK--PHA------------18
25.Fetus, female#34 wksdaughter of P79,sister of P11n/an/a, patbHK--------------+7
26.n/a§n/a1.58 Mb34,822,465–36,404,555 (hg19)HK------+--------9
27.Male1 m.o.son of P83n/an/a, mat--+OHAbMCK+---------+ C7
28.Female4 m.o.1.49 Mb34,822,465–36,311,009 (hg19)HK++PHA--+++-------20
29.Male4 m.o.1.43 Mb31,889,297–33,323,037 (hg18)[34,815,184–36,248,924 (hg19)]MK--OHAMK+--+--++---2
30.Male5 m.o.twin of P311.59 Mb34,822,465–36,418,529 pat (hg19)bHKmild renal PCD++PHAHMKPCDAF+---------+ C20
31.Male5 m.o.twin of P301.59 Mb34,822,465–36,418,529 pat (hg19)bHKmild renal PCD---bHMKAF+---------+ C20
32.n/a7 m.o.1.48 Mb34,822,465, 36,307,773 (hg19)RPS---------------9
33.Male7 m.o.son of P761.69 Mb31,635,490–33,323,002 mat (hg18)[34,611,377–36,248,889 mat (hg19)]bMK-+-bMK+-+---+-+++ C4
34.Male9 m.o.son of P851.60 Mb34,856,085–36,455,391 mat (hg19)HK--PHAMK+---------+ C21
35.Male1 y 9 m.o.son of P881.38 Mb31,893,783–33,277,865 mat (hg18)[34,819,670–36,203,752 mat (hg19)]---------+-----+ C12
36.Female1 y 10 m.o.1.38 Mb31,893,783–33,277,865 (hg18)[34,819,670–36,203,752 (hg19)]---------+------12
37.n/a2 y.o.1.58 Mb34,822,465–36,404,555 (hg19)MCK---MDK+---+------9
38.Female2 y.o.daughter of P84n/an/a, mat---PHA-+-+-+--++++ C7
39.Male2 yrs 6 m.o.brother of P421.40 Mb31,923,035–33,323,544 mat (hg18)[34,848,922–36,249,431 mat (hg19)]different size kidneys (30 wks)---bHMDK+---+-----+ C22
40.Male3.5 y.o.1,84 Mb31,550,027–33,399,810 (hg18)[34,525,914–36,307,186 (hg19)]CK------- +------23
41.Male3.8 y.o.1,50 Mb31,889,664–33,386,049 (hg18)[34,815,551–36,295,000 (hg19)]HK--------+------23
42.n/a4 y.o.sibling of P391.40 Mbn/a patHK (33 weeks)---MK(9 mo)----+++---+ C17
43.n/a4 y.o.1.70 Mb34,550,633–36,248,889 pat (hg19)HK (23 weeks)---MK(6 mo)----+-----+ C17
44.Female4 y.o.twin of P451.57 Mb34,815,551–36,383,538 (hg19)HK---HMCK----+------17
45.Female4 y.o.twin of P441.57 Mb34,815,551–36,383,538 (hg19)HK---HMCK----+------17
46.Female4 y.o.1.79 Mb34,629,683–36,424,950 pat (hg19)absent left kidney-+PHAHMDK+-+-+---+-+ C24
47.Male4 y.o.1.38 Mb31,893,783–33,277,865 (hg18)[34,819,670–36,203,752 (hg19)]---------+------12
48.Male4 y.o.2.07 Mb31,635,490–33,708,909 (hg18)[34,611,377–36,455,391 (hg19)]MK---MK /HK+---++-+++-4
49.Female5 y.o.◆sister of P81.75 Mb34,653,178–36,402,867 mat (hg19)----bDK----------C15
50.Male5 yrs. 6 m.o.1.43 Mb31,889,297–33,323,037 (hg18)[34,815,184–36,248,924 (hg19)]MDK---MDKAF+-----+----2
51.Male5 yrs. 8 mo.1.88 Mb34,437,475–36,243,028 (hg19)bHK (15 wks)bMK (17 wks)+--HMKAF-+++--+-+--25
52.Female6 y.o.sister of P60,daughter of P89n/an/a, mat---------+---+-+ C7
53.Male6 y.o.n/an/a----AG++--++---+-26
54.Female7 y.o.sibling of P341.40 Mb31,923,035–33,323,544 mat (hg18)[34,848,922–36,249,431 mat (hg19)]---------+-----+ C22
55.Male7 y.o.n/an/a----One cyst, partial duplicated collecting system+++ + + ++-7
56.Male7 y.o.1.38 Mb31,893,783–33,277,865 (hg18)[34,819,670–36,203,752 (hg19)]---------+------12
57.Male7 yrs 5 mo1.80 Mb34,475,679–36,283,807(hg19)HN (22 weeks)----+---+---+--Patient C current study
58.Male8 y 8 m.o.n/an/a--+--+--++---+--27
59.Male9 y.o.1.83 Mb31,543,857–33,371,626 (hg18)[34,519,744–36,335,380 (hg19)]HK, MCK, PY, HY---moderate renal failure--+-+------23
60.Female10 y.o.sister of P52,daughter of P89n/an/a, mat-----+---+---+-+ C7
61.Male10 y.o.1.38 Mb31,893,783–33,277,865 (hg18)[34,819,670–36,203,752 (hg19)]---------+------12
62.Male10 y.o.son of P821.78 Mb34,468,470–36,248,889 mat (hg19)bHMK---LK----+---+-+ C21
63.Female12 y.o.n/an/a--+--+-+-+---+++27
64.Female12 y.o.1.73 Mb31,593,883–33,323,002 (hg18)[34,569,770–36,248,889 (hg19)]bHMK---MK----+-----+4
65.Male12 y.o.1.38 Mb31,893,783–33,277,865 (hg18)[34,819,670–36,203,752 (hg19)]---------+------12
66.Male12 y.o.1.43 Mb34,816,255–36,244,358 (hg19)---------+---+--5
67.Female13 y.o.1,43 Mb31,889,297–33,323,037 (hg18)[34,815,184–36,248,924 (hg19)]MK----+---+-----+2
68.Female14 y.o.n/an/aMCK--PHAleft AG----+----+-7
69.Male15 y. 8 m.o.1.42 Mbn/a----bMCK+---+---++-27
70.Male17 y.o.1.89 Mb34,464,879–36,352,140 (hg19)-----+--++-+--+-28
71.Female18 y.o.1.42 Mbn/a----bMCK---------O, D+27
72.Female18 y.o.1.50 Mbn/a----MCD--+-+------29
73.Female19 y.o.1.38 Mb31,893,783–33,277,865 (hg18)[34,819,670–36,203,752 (hg19)]---------+------12
74.Female20 y.o.1,43 Mb31,889,297–33,323,037 (hg18)[34,815,184–36,248,924 (hg19)]----DKAG----+----+-2
75.Male20 y.o.1.40 Mbn/a----UVJO--+-+----D, Mg↓-30
76.Female22 y.o.mother of P331.69 Mb31,635,490–33,323,002 (hg18)[34,611,377–36,248,889 (hg19)]left MCDK---involution of leftMCDK----------+4
77.Male22 y.o.1.38 Mb31,893,783–33,277,865 (hg18)[34,819,670–36,203,752 (hg19)]---------+------12
78.Female26 y.o.1.58 Mb34,790,209–36,373,398 (hg19)MCK------+-+----D-31
79.Male26 y.o.father of P48, P50n/an/a----bHK+-+-+-+-+O+ C7
80.Female28 y.o.mother of P671.42 Mb34,822,465–36,244,332 (hg19)HK---bMCK----------+ C18
81.Female28 y.o.1.80 Mbn/a----bMCK, AF+-+-+-----+27
82.Female29 y.o.mother of P241.78 Mb34,468,470–36,248,889 (hg19)bHMK---one cyst----+---+-+ C21
83.Female30 y.o.mother of P56n/an/a---------+----D+ C7
84.Female32 y.o.mother of P46n/an/a----bHY, bNP--+-+-----+7
85.Female32 y.o.mother of P141.59 Mb34,856,085–36,455,391 (hg19)---PHAbMK--+------O, D+ C21
86.Female35 y.o.1.58 Mb34,822,465–36,404,104 (hg19)----MCK--+-----+++ C32
87.Female36 y.o.1.58 Mb34,790,209–36,373,398 (hg19)----MCKkidney failure--+-+---+D-31
88.Female37 y.o.mother of P871.38 Mb31,893,783–33,277,865 (hg18)[34,819,670–36,203,752 (hg19)]---------+------12
89.Female38 y.o.mother of P53, P54n/an/a----HY----+-----+ C7
90.Male43 y.o.n/an/a----HN, UPJO--+++-+--+Mg↓-33
91.Female45 y.o.n/an/a----a/hypoplasia, AF---+--++-O, D-27
92.Male62 y.o.1,41 Mb34,815,551–36,223,325 (hg19)----bMCK---++-+--Mg↓, D+34
TOTAL1.32–2.07 MbSmallest 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%)
DOI: https://doi.org/10.2478/bjmg-2021-0025 | Journal eISSN: 2199-5761
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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
Publication frequency: 2 issues per year
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.

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