Accès libre

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

A Țuțulan-Cuniță
A Țuțulan-Cuniță
, 
AG Pavel
AG Pavel
, 
L Dimos
L Dimos
, 
M Nedelea
M Nedelea
, 
A Ursuleanu
A Ursuleanu
, 
AT Neacșu
AT Neacșu
, 
M Budișteanu
M Budișteanu
 et 
D Stambouli
D Stambouli
   | 05 juin 2022
Balkan Journal of Medical Genetics's Cover Image
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Article Category: Case Report
Publié en ligne: 05 juin 2022
Pages: 71 - 82
DOI: https://doi.org/10.2478/bjmg-2021-0025
Mots clés
© 2021 A Țuțulan-Cuniță et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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, age Deletion size / coordinates Prenatal Postnatal Relative with possibly related clinical phenotype Ref
Urinary system DH Other anomalies Amniotic fluid Urinary system LBW/Growth delay Respiratory Digestive Cardiovascular Neurological Muscular Bone Genital Facial dysmorphism Other
1. Fetus#n/a 1.42 Mb34,822,465–36,243,365 (hg19) HN - - - - - - - - - - - - - - - 9
2. Fetusn/a 1.48 Mb34,832,294–36,316,144 (hg19) Left MCDK - - - - - - - - - - - - - - C 13
3. Fetus#n/a 1.58 Mb34,822,465–36,404,104 (hg19) bDK - - - - - - - - - - - - - - - 9
4. Fetusn/a 1.58 Mb34,822,465–36,404,104 (hg19) Right MCDK - - - - - - - - - - - - - - C 13
5. Fetus#n/a 1.59 Mb34,822,456–36,410,720 (hg19) bHK - - - - - - - - - - - - - - - 14
6. Fetus#n/a 1.74 Mb31,836,750–33,582,750 (hg17)[34,762,637–36,252,627 (hg19)] bMDK UTA - - - - - - - - - - - - - - - 1
7. Fetus#17 weeks 1.32 Mb34,851,537–36,168,104(hg19) UTA - + - - - - - - - - - - - - - Patient B current study
8. Fetus, male#18 wksbrother of P49 1.75 Mb34,653,178–36,402,867 mat (hg19) bHK, bHN, UTA (18 wks)MK, HN, UTA (21 wks) - - - - - - - - - - - - - - + C 15
9. Fetus, female§19 wks 1.39 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 weeks 1.57 Mb34,815,551–36,383,538 (hg19) bHK (22 weeks) - - - - - - - - - - - - - - - 17
11. Fetus, male#22 wkson of P79, brother of P25 n/an/a, pat bHK, bDK, one cyst - + - - - - - - - - - - - - + C 7
12. Fetus#22 wks 1.58 Mb34,822,465–36,404,136 (hg19) HK, MDK - - - - -‘ - - - - - - - - - - 18
13. Fetus22 wks 1.58 Mb34,822,492–36,404,104 (hg19) HK, bHN - - - - -‘ - - - - - - - - - - 18
14. Fetus#23 wks 1.60 Mb34,822,465–36,418,529 (hg19) HK, bDK - - - - -‘ - - - - - - - - - - 18
15. Fetus23 wks 1.94 Mb34,475,679–36,410,720 (hg19) HK, left MCDK - - - - - - - - - - - - - - - 18
16. Fetus#24 weeks 1.35 Mb34,817,422–36,168,104 (hg19) MDK - - - - - - - - - - - - - - - Patient A current study
17. Fetus24 wksoffspring of P80 1.42 Mb34,822,465–36,244,332 (hg19) HK, MDK - - - - - - - - - - - - - - + C 18
18. Fetus24 wks 1.42 Mb34,822,465–36,243,365 (hg19) HK - - PHA - - - - - - - - - - - - 18
19. Fetus24 wks 1.49 Mb34,822,465–36,307,773 (hg19) left HK, right MCDK - - - - - - - - - - - - - - - 18
20. Fetus#24 wks 1.60 Mb34,822,465–36,418,529 (hg19) bMCDK, bilateral cystic adenomatoid malformation - + AHA - - - - - - - - - - - - 18
21. Fetus25 wks 1,49 Mb34,822,465–36,316,144 (hg19) HK - - PHA - - - - - - - - - - - - 18
22. Fetus26 wks 1.58 Mb34,822,465–36,404,555 (hg19) HMDK - - - - - - - - - - - - - - - 18
23. Fetus, male#32 wks 1.93 Mb34,477,479–36,404,104 (hg19) bHMDK - + PHA - - - - - - - - - - - - 19
24. Fetus#32 wks 1.93 Mb34,477,479–36,404,104 (hg19) bHMDK - - PHA - - - - - - - - - - - - 18
25. Fetus, female#34 wksdaughter of P79,sister of P11 n/an/a, pat bHK - - - - - - - - - - - - - - + 7
26. n/a§n/a 1.58 Mb34,822,465–36,404,555 (hg19) HK - - - - - - + - - - - - - - - 9
27. Male1 m.o.son of P83 n/an/a, mat - - + OHA bMCK + - - - - - - - - - + C 7
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 - - OHA MK + - - + - - + + - - - 2
30. Male5 m.o.twin of P31 1.59 Mb34,822,465–36,418,529 pat (hg19) bHKmild renal PCD + + PHA HMKPCDAF + - - - - - - - - - + C 20
31. Male5 m.o.twin of P30 1.59 Mb34,822,465–36,418,529 pat (hg19) bHKmild renal PCD - - - bHMKAF + - - - - - - - - - + C 20
32. n/a7 m.o. 1.48 Mb34,822,465, 36,307,773 (hg19) RPS - - - - - - - - - - - - - - - 9
33. Male7 m.o.son of P76 1.69 Mb31,635,490–33,323,002 mat (hg18)[34,611,377–36,248,889 mat (hg19)] bMK - + - bMK + - + - - - + - + + + C 4
34. Male9 m.o.son of P85 1.60 Mb34,856,085–36,455,391 mat (hg19) HK - - PHA MK + - - - - - - - - - + C 21
35. Male1 y 9 m.o.son of P88 1.38 Mb31,893,783–33,277,865 mat (hg18)[34,819,670–36,203,752 mat (hg19)] - - - - - - - - - + - - - - - + C 12
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 P84 n/an/a, mat - - - PHA - + - + - + - - + + + + C 7
39. Male2 yrs 6 m.o.brother of P42 1.40 Mb31,923,035–33,323,544 mat (hg18)[34,848,922–36,249,431 mat (hg19)] different size kidneys (30 wks) - - - bHMDK + - - - + - - - - - + C 22
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 P39 1.40 Mbn/a pat HK (33 weeks) - - - MK(9 mo) - - - - + + + - - - + C 17
43. n/a4 y.o. 1.70 Mb34,550,633–36,248,889 pat (hg19) HK (23 weeks) - - - MK(6 mo) - - - - + - - - - - + C 17
44. Female4 y.o.twin of P45 1.57 Mb34,815,551–36,383,538 (hg19) HK - - - HMCK - - - - + - - - - - - 17
45. Female4 y.o.twin of P44 1.57 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 - + PHA HMDK + - + - + - - - + - + C 24
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 P8 1.75 Mb34,653,178–36,402,867 mat (hg19) - - - - bDK - - - - - - - - - - C 15
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 P89 n/an/a, mat - - - - - - - - - + - - - + - + C 7
53. Male6 y.o. n/an/a - - - - AG + + - - + + - - - + - 26
54. Female7 y.o.sibling of P34 1.40 Mb31,923,035–33,323,544 mat (hg18)[34,848,922–36,249,431 mat (hg19)] - - - - - - - - - + - - - - - + C 22
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 mo 1.80 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 P89 n/an/a, mat - - - - - + - - - + - - - + - + C 7
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 P82 1.78 Mb34,468,470–36,248,889 mat (hg19) bHMK - - - LK - - - - + - - - + - + C 21
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/a MCK - - PHA left 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 P33 1.69 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, P50 n/an/a - - - - bHK + - + - + - + - + O + C 7
80. Female28 y.o.mother of P67 1.42 Mb34,822,465–36,244,332 (hg19) HK - - - bMCK - - - - - - - - - - + C 18
81. Female28 y.o. 1.80 Mbn/a - - - - bMCK, AF + - + - + - - - - - + 27
82. Female29 y.o.mother of P24 1.78 Mb34,468,470–36,248,889 (hg19) bHMK - - - one cyst - - - - + - - - + - + C 21
83. Female30 y.o.mother of P56 n/an/a - - - - - - - - - + - - - - D + C 7
84. Female32 y.o.mother of P46 n/an/a - - - - bHY, bNP - - + - + - - - - - + 7
85. Female32 y.o.mother of P14 1.59 Mb34,856,085–36,455,391 (hg19) - - - PHA bMK - - + - - - - - - O, D + C 21
86. Female35 y.o. 1.58 Mb34,822,465–36,404,104 (hg19) - - - - MCK - - + - - - - - + + + C 32
87. Female36 y.o. 1.58 Mb34,790,209–36,373,398 (hg19) - - - - MCKkidney failure - - + - + - - - + D - 31
88. Female37 y.o.mother of P87 1.38 Mb31,893,783–33,277,865 (hg18)[34,819,670–36,203,752 (hg19)] - - - - - - - - - + - - - - - - 12
89. Female38 y.o.mother of P53, P54 n/an/a - - - - HY - - - - + - - - - - + C 7
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
TOTAL 1.32–2.07 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%)
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