 |
 |
-
multiple sSMC
-
- from 6 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 6-1 |
male/ 47y |
PBL | de novo |
47-52,XY,+mar1-6[30] | see below | midi; all centromeric probes and YAC probes as specified in {13} |
moderate mental retardation; no dysmorphism | {13; 0} |
| r(1)(::p11.1→q21.1:)[12]/r(1)(::q21.1→p11.1::p11.1→q21.1::)[5]/min(1)(:p11.1→q21.1:)[2]/ der(1)(:q21.1→p11.1::p11.1→q21.1:)[1] present in ~34% ?r(2) der(5)(:p11→q11.1::q11.1→p11:) or der(5)(:q11→p11::q11.1→p11:) or der(5)(:p11→q11.1::p11→q11.1:) present in ~62% min(6)(:p11.1→q11.1:)[7]/ min(6)(:p11.2→q11.1:)[3]/der(6)(:p11→q11.1::q11.1→p11.1:) or der(6)(:q11→p11.1::q11.1→p11.1:) or der(6)(:p11→q11.1::p11.1→q11.1:)[1] present in ~51% min(12)(:p11.1→q11:)[15]/der(12)(:p11.1→q11::q11→p11.1:) or der(12)(:q11→p11.1::q11→p11.1:) or der(12)(:p11.1→q11::p11.1→q11:)[6]present in ~15% inv dup(14)(q11.1) present in ~15% |
||||||||
| mult 6-2 |
female/ 6y |
PBL | de novo | 47-52,XX,+mar1-6[50] | see below | all cep probes; wcp probes for markers; array CGH | mild developmental delay, dysmorphic features, impaired speech, II-III toes syndactily, velar deficiency, height: 123.5cm (+1SD), weight 31kg (+4SD), head circumference -1SD, anxious, behavioral problems | {32} |
| mar(3)(:p12.3→q13.13:)[58%] array-CGH: RP11-59E22 to RP11-71D1; mar(12)(:p11.22→q12:)[100%] array-CGH: RP11-780A5 to RP11-490D11; mar(13 or 21); mar(22) [18%]; mar(X) [18%]; 6th DAPI positive marker not identified [2%] | ||||||||
| mult 6-3 |
n.a./ 7m |
PBL | n.a. | 49-52,XN,+3-6 mar | mar(1) mar(8) mar(13) possible also complex sSMC with material from X, 6 and 16 |
aCGH |
VSD, patent ductus arteriosus, low set ears, widely spaced nipples | {54} case 2 |