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multiple sSMC
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- from 7 different CHROMOSOMES derived -
ONLY CASES
ARE INCLUDED HERE, WHERE THE ORIGIN OF THE
sSMC WAS CHARACTERIZED
CASES DESCRIBED IN PRE-FISH ERA ARE NOT LISTED.
In general 70% of sSMC carriers are clinically normal. The figures listed here
are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!
Also cases with multiple sSMC are more likely to lead to clinical aberrations than cases with one sSMC.
CASES DESCRIBED IN PRE-FISH ERA ARE NOT LISTED.
In general 70% of sSMC carriers are clinically normal. The figures listed here
are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!
Also cases with multiple sSMC are more likely to lead to clinical aberrations than cases with one sSMC.
| 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 |
| mult 7-1 |
male/ prenatal |
AF/PBL |
de novo | 49-53,XY,+mar1-7[100%] | r(11)
in ~84% ?r(1) in ~90% ?r(3) in ~80% min(X) in ~88% min(20) in ~74% min(14) in ~94% min(21) in ~83% |
midi; all centromeric probes wcp probes |
see below | {17} |
| detected prenatally due to suggested bladder outlet obstruction in ultrasound; child born in 36. week with 3190g, 52cm, OFC 35.3cm; Apgar 9/10/10; mild macrocephaly, unilateral hydronephrosis, at 4m (psychomotor) development normal | ||||||||
| mult 7-2 |
male/ prenatal |
AF/PBL | de novo (? - father n.a.) | 49-53,XY,+mar1-7[100%] | see below | all centromeric probes | detected prenatally due to advanced maternal age; normal in ultrasound, baby born in week 36 of gestation; grossly normal (also at age of 2 y) apart from hypospadia and undescended testes | {23} |
| Amniocytes:
mar(1/5/19),mar(6),mar(9)[27]/mar(1/5/19),mar(6),mar(9),mar(13/21)[23]/ mar(1/5/19),mar(6),mar(9)x2,mar(13/21)[34]/mar(1/5/19),mar(2),mar(4),mar(6),mar(9),mar(13/21)[11]/ mar(1/5/19),mar(2),mar(4),mar(6),mar(9),mar(10),mar(13/21)[5] Chord blood: mar(1/5/19),mar(6),mar(9)[47]/mar(1/5/19),mar(6),mar(9),mar(13/21)[33]/mar(1/5/19), mar(6),mar(9),mar(13/21)[20] |
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