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multiple sSMC
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- from 5 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 5-1 |
male/ 1w |
PBL; skin fibro |
n.a. | 51,XY,+mar1-5[20%] 50,XY,+mar1-4[47%] 49,XY,+mar1-3[29%] 48,XY,+mar1-2[4%] |
min(6) min(7) min(10) min(12) min(19) |
COBRA-FISH; centromeric probes; telomeric probe |
see below | {18} |
| born at term but the pregnancy was complicated by hydramnion and moderate hypertension in the 25th and 35th weeks, respectively. At birth APGAR score normal, length 55 cm (90-97centile), head circumference 37 cm, weight 4,880 g (>97 centile), placenta weight 1,145 g. Physical examination showed hypotonia, opisthotonos, broad nasal bridge, large lips, retrognathia, and proximally implanted thumbs. Auscultation revealed heart tones on the right side of the thorax and a chest X-ray disclosed a total situs inversus and an atrium septal defect (confirmed by ultrasound). I.V.P. showed renal cysts. A CT-scan of the brain revealed slight widening of the ventricles, agenesis of the corpus callosum with normal sulci. For the first 6 months, the child experienced drinking problems, esophageal reflux, vomiting, and apnoeic attacks. Tetraplegia and psychomotor retardation became gradually apparent. The child died suddenly at home at the age of 7 months. Permission for post-mortem examination was not granted. | ||||||||
| mult 5-2 |
male/ prenatal |
CH | n.a. | 50~55,XX,+4~9mar | min(X)(:p11.1→q11.1:) min(1)(:p11.1→q11:) or min(5)(:p11→q11.1:) or min(19)(::p11→q11:) r(12)(::p11.2→q11.1::) min(13)(:p11.1→q12.1:) min(16)(:p11.1→q11.1:) |
cenM, subcenM |
hypotroph fetus with enhanced nuchal translucency, hexadactyly and omphalocoele. TOP. | {0 provided by Dr. Mau-Holzmann, Tübingen, Germany} |
| mult 5-3 |
n.a./ prenatal |
CH | n.a. | mos 47-?50,XN,+mar1-?6 | min(4) (:p12→q12:) min(6) (:p11.1→q11.1:) min(9) (:p12→q12:) min(14) (:p11.1→q11.1:) min(22) (:p11.1→q11.1:) |
cenM, subcenM; aCGH | TOP | {42} {54} prenatal case |
| mult 5-4 |
female/ 3y |
n.a. | n.a. | mos 49-51,XX,+mar1-5 | der(12)
- maybe inv dup(12p) der(19) der(21) der(22) der(X) |
SKY | n.a. | {52} 1 case |
| mult 5-5 |
female/ 3.5y |
PBL | de novo | 47–50,XX,+mar1,+mar2,
+mar3,+mar4 not all mar in all cells, obviously |
der(2)(:p11.1→q12.1:) 97.113-102.257 Mb der(6)(:p12.1→q13:) 52.615-72.799 MB del(13 or 21)(q10) not visible in aCGH del(14)(q11.2) 0-22.172 MB der(20)(:?p11.1→q11.22:) 29.839-33.240 MB aCGH (hg18) |
ceps; aCGH UPD test for #14 |
normal pregancy and birth; at 2m iriscoloboma, myopia, asigmatism, glaukoma diagnosed; at 3.5y DD, growth redardation (25th centile), microsecpahy (3rd centile); slight DYS | {0} provided by family |
| mult 5-6 |
female/ adult |
PBL | n.a. | 47~51,XX,+mar1-5 | see below |
cenM, subcenM; aCGH | MR | {0} provided from
Portugal |
| 47,XX,+del(15)(q11.1)[3]/47,XX,+min(17)(:p11.2→q11.2:)[1]/48,XX,+del(15)(q11.1),min(17)(:p11.2→q11.2:)[2]/ 48,XX,+min(14 or 22)(:p11.1→q11.1:),+del(15)(q11.1)[1]/49,XX,+min(14 or 22)(:p11.1→q11.1:),+del(15)(q11.1),+min(X or 10 or 17 or 19)[1]/ 49,XX,+del(15)(q11.1),+min(17)(:p11.2>q11.2:),+min(19)(:p13.12→q12:)[1]/49,XX,+min(10)(:p11.1→q11.1:),+del(15)(q11.1),+min(19)(:p13.12→q12:)[1]/ 49,XX,+min(10)(:p11.1→q11.1:),+del(15)(q11.1),+min(17)(:p11.2>q11.2:)[5]/50,XX,+min(14 or 22)(:p11.1→q11.1:),+del(15)(q11.1),+min(X or 10 or 17 or 19)x2[2]/ 50,XX,+min(10)(:p11.1→q11.1:),+del(15)(q11.1),+min(14 or 22)(:p11.1→q11.1:),+min(19)(:p13.12→q12:)[1]/ 50,XX,+min(10)(:p11.1→q11.1:),+del(15)(q11.1),+min(17)(:p11.2→q11.2:),+min(19)(:p13.12→q12:)[1]/ 50,XX,+?min(X)(:p11→q11:),+del(15)(q11.1),+min(17)(:p11.2→q11.2:),+min(19)(:p13.12→q12:)[1]/ 51,XX,+?min(X)(:p11→q11:),+min(10)(:p11.1→q11.1:),+del(15)(q11.1),+min(17)(:p11.2→q11.2:),+min(19)(:p13.12→>q12:)[1] |
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