FISH
SMALL SUPERNUMERARY MARKER CHROMOSOMES- sSMC (1)/5/19 -
|
| Cases without clinical findings |
3 |
Cases with clinical findings |
3 |
symptoms |
| Cases with unclear clinical correlation |
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In general 70% of sSMC carriers are clinically normal. The figures here
are based on the bias, that mainly clinically aberrant cases are reported in literature!
Cases without clinical findings (O)
| case no. | gender/ age at diagnosis | studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC | test methods |
clinical symptoms | reference | ||
| 05/19-O-p11/ 1-1 |
female/ 36y |
PBL | n.a. | 47,XX,+mar[50%]/ 46,XX[50%] |
min(5)(:p11→q11.1:) or min(19)(:p11→q12:) | cenM, subcenM | normal woman, unfulfilled wish for children | {0} provided by Wagner, Stibbe, Hannover, Germany | ||
O-cases with unclear/insufficient characterization of the sSMC itself (CO)
| case no. | gender/ age at diagnosis | studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC | test methods |
clinical symptoms | reference | ||
| 05/19- CO-1 |
female/ 1m |
PBL cell line at ECACC DD0617 |
de novo | 47,XX,+mar[50%]/ 46,XX[50%] in cell line no marker acc to {5} |
mar (5 or 19) |
FISH with all available centromeric probes; UPD-test | clinically normal; studied due to failure to thrive, severe floppiness and pneumonia at 3w. | {1} case 20 {3} case 10 {5} case 16} |
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| 05/19- CO-2 |
male/ prenatal |
AF | de novo | 47,XY,+mar[28]/ 46,XY[22] |
r(1 or 19) | FISH with all available centromeric probes, telomeric probes | see below | {4} case 5 | ||
|
Amniocentesis due to a Down syndrome risk of 1/170 on maternal serum triple marker screening, child born at 41 weeks gestation, and at three months of age was reported to be phenotypically normal. |
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Cases with clinical findings (W)
| case no. | gender/ age at diagnosis | studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC | test methods |
clinical symptoms | reference | ||
| 05/19- W-1 |
male/ child |
PBL | n.a. | 47,XY+mar1[14]/ 47,XY,+mar2[2] | min(1)(:p11→q11:) or min(5)(:p11→q11.1:) or min(19)(:p11→q11) (mar2 is duplication of mar1) |
cenM, subcenM, 1q12 | hyperactivity, short stature, high arched palate. Long face. Short fingers. relatively large penis | {0} provided by Dr. M.Sagai, Jerusalem, Israel | ||
W-cases with unclear/insufficient characterization of the sSMC itself (CW)
| case no. | gender/ age at diagnosis | studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC | test methods |
clinical symptoms | reference | ||
| 05/19- CW-1 |
male/ prenatal |
CH/PBL | de novo | 47,XY,+mar1[27%]/ 47,XY,+mar2[13%]/ 47,XY,+mar3[20%]/ 46,XY[40%] see below |
mar1 = min(5 or 19) mar2 = dic(5 or 19) mar3 = ? |
FISH with all available centromeric probes | Chorion biopsy due to advanced maternal age; at 14m large head (98. centile, frontal bossing, epicanthic folds, hypotonia, developmental delay. | {3} case 11 | ||
|
(in CH mar in 60%; at birth mar in 60% of PBL; frequency given above is from 14m) |
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| 05/19- CW-2 |
n.a./ prenatal |
AF | de novo | 47,+mar[?%] | r(1 or 5 or 19) | n.a. | cystic hygroma, TOP | {7} 1 case | ||
Cases with unclear clinical correlation (U)
| case no. | gender/ age at diagnosis | studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC | test methods |
clinical symptoms | reference | ||
| 05/19- U-1 |
female/ 7y |
PBL cell line at ECACC DD1145 |
de novo | 47,XX,+mar[25]/ 46,XX[9] |
mar(5 or 19) | FISH with all available centromeric probes; UPD-test |
clinically normal according to {1}; large head, frontal bossing, hypotonia, epicanthic folds, developmental delay, floppy according to ECACC | {1} case 19 {2} case 22 |
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| 05/19- U-2 |
female/ prenatal |
AF | de novo | 47,XX,+mar[80%]/ 46,XX[20%] |
min(1)(:p11→q11:) or min(5)(:p11→q11.1:) or min(19)(:p11→q11) | cenM; subcenM; UPD-test |
amniocentesis due to advanced maternal age; no further information available | {0} provided by Genteq, Hamburg, Germany | ||
| 05/19- U-3 |
female/ prenatal |
AF | de novo | 47,XX,+mar[?100%] | min(1)(:p11→q11:) or min(5)(:p11→q11.1:) or min(19)(:p11→q11) | cenM; subcenM | amniocentesis due to advanced maternal age; no US abnormalities. TOP. No dysmorphism in autopsy | {0} provided by Dr. Bhatt, Sucheta, USA | ||
| 05/19- U-4 to U5 |
n.a./ n.a. |
n.a. | n.a. | 47,+mar[?%] | mar(1/5/19) | centromeric probes | no info available | {6} 2 cases | ||
| 05/19- U-6 |
moved to 19-U-17 | {0} provided by Dr. Eiben, Oberhausen, Germany | ||||||||
| 05/19- U-7 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[27]/ 46,XX[11] |
min(5)(:p11→q11.1:) or min(19)(:p11→q12:) | cenM; subcenM | amniocentesis due to advanced maternal age; Nno further info available | {0} provided by Dr. Mehnert, Neu-Ulm, Germany | ||