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-
multiple sSMC
-
- from 3 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 3-1 |
male/ prenatal |
AF Fibroblasts |
de novo | 49,XY,+r1,+r2,+r3/ 48,XY,+r1,+r2/ 48,XY,+r1,+r3/ 47,XY,+r1/ 47,XY,+r2/ 47,XY,+r3/ 46,XY |
r1
= r(4;4)[~53%].ish (cep++;wcp-) r2 = r(17)[~55%].ish (cep+;wcp-) r3 = r(20)[~30%].ish (cep+,wcp+) |
all centromeric probes and wcp probes | amniocentesis due to advanced maternal age; pregnancy terminated in week 21; fetal pathology showed minor dysmorphic features (slight brachycephaly, large anterior fontanels, hypertelorism, nuchal thickening) | {1} case 1 |
| mult 3-2 |
male/ prenatal |
AF | de novo | 49,XY,mar1,+mar2,
+mar3[?]/ 48,XY,+mar1,+mar2[7] |
mar1
= mar(12) mar2 = mar(19) mar3= mar(13/21) |
n.a. | amniocentesis due to abnormal ultrasound findings; at birth developmental delay and dysmorphic features | {25} case 103 |
| mult 3-3 |
male/ prenatal |
AF | de novo | 48-50,XY,+r, +1-3mar[11]/ 47-49,+1-3mar[10] |
mar(4); mar(8), mar(non-acrocentric) | n.a. | amniocentesis due to advanced maternal age; normal at 20 months | {25} case 104 |
| mult 3-4 |
female/ prenatal |
AF skin fibroblasts |
de novo | 47~50,XX,+mar1, +mar2,+mar3[cp50] |
mar(3);
mar(7); mar(8) |
all centromeric probes, all wcp probes | amniocentesis due to enhanced Down syndrome risk after prenatal serum screening, normal ultrasound; TOP in week 22; autopsy: small VSD, cliteromegaly, pulmonary segmental defects | {29} |
| mult 3-5 |
male/ 4m |
PBL (EKF- cellbank) |
de novo | 49,XY,+3mar[13]/ 48,XY,+2mar[22]/ 47,XY,+mar[23]/ 46,XY[2] |
r(4)(::p12→q12::)[?] min(8)(:p11.21→q11.21::)[6] min(8)(:p21.1→p12: :p11.21→q11.21:)[14] 40.08-53.56 MB (hg19) r(11)(::p11.12→q11.1::)[?] acc. to NGS sSMC(8) is a mar(8)(:p11.21→q11.23: :q12.1q12::q12q12:) spanning chr8:g[:53561524::GCCCTAAGGAATCTCC: :60002688_60002774::TGG: :55759348_55759565: :TGATGTGTCACCTTGCTTTTAGATCTGAAGGTGA: :40082798:] |
cenM; subcenM; CR-FISH; NGS |
Pierre-Robin-sequence, ventricular septum defect, patent foramen ovale, cryptochism, flaccid joints, gothic palate, umbilical hernia, at birth urinary tract infection | {54}
postnatal case {56} case 6 {58} case sSMC8a |
| mult 3-6 |
male/ 4y |
PBL | de novo | 49,XY,+3mar[9]/ 48,XY,+2mar[25]/ 47,XY,+mar1[13]/ 47,XY,+mar2[14]/ 46,XY[3] |
mar1
= mar(5)(:p11→q11.2:) 49.73-52.94MB mar2 = mar(8)(:p21.1→q11.22:) 19.15-51.87MB mar3 = min(9)(:p13.3→q11:) 34.25-39.18MB |
aCGH | Mental
retardation, hypertelorism, upslanting
palpebral fissures, bifid uvula,
hypospadias, right testicular ectopia,
syndactyly toes 2 and 3, obesity |
{37} case P-14 |
| mult 3-7 |
female/ 15y |
PBL | de novo | 49,XX,+3mar[?%]/ 48,XX,+2mar[?%]/ 47,XX,+mar[?%] |
mar1
= min(2)(:p11.2→q11.2:) 88.11-99.00MB mar2 = min(3)(:p12.1→q11.1:) 86.20-90.26MB mar3 = min(7)(:p11.21→q11.1:) ?-.MB |
aCGH | Short
stature, short webbed neck, low hair line,
short hands, stubby fingers, generalized
hypotonia, short 3-4 toes |
{37} case P-15 |
| mult 3-8 |
see
multi 4-12 |
|||||||
| mult 3-9 |
male/ 3y |
PBL | de novo | 49,XY,+3mar[9]/ 48,XY,+2mar[16]/ 47,XY,+mar[1] |
dic
r(15)ins(15;5)(?;q35.5q35.3) min(18)(:p11.21→q11.1:)* min(18)(:p11.1→q11.1:)* #5: 178.49-179.52MB #15: 20.37-29.35MB #18: 11.69-17.15MB |
aCGH, cep
probes locus specific probes |
during pregnancy preeclampsia, walking with 15m, language development severely delayed; hyperactive, at 3y: weight and height ~90th centile, dysmorphic face | {40; 49} |
| mult 3-10 |
female/ 4y |
PBL | n.a. | 49,XY,+3mar[2]/ 48,XY,+2mar[18]/ 47,XY,+mar[8] 46,XX[2] |
der(1) (:p11.2→q1?2:) der(12)(:p13.3→q13.11:) der(18)(:p11.21→q1?1:) |
aCGH, cep probes | severe
mental retardation, absent speech, prominent
forehead, epicanthus folds, hypertelorism,
large ears, depressed broad nasal bridge,
long smooth philtrum and a wide mouth with
thin upper lip. She still
walks on the tips of her toes |
{41; 51} |
| mult 3-11 |
female/ postnatal |
PBL | de novo | 49,XY,+3mar[?]/ 48,XY,+2mar[?]/ 47,XY,+mar[?] |
min(2)(:p11.1→q11.1:) der(18)(:p11.21q11: :q11→p11.21:) der(?) #18: ~0.52MB in p euchromatin |
pericentric
BAC-probe set |
no clinical signs | {50} case 15 |
| mult 3-12 |
female/ postnatal |
PBL | n.a. | 49,XX,+3mar[5]/ 48,XX,+2mar[4]/ 47,XX,+mar[1] |
min(7)(:p11.1→q11.1:)[5]/min(7)(:p11.1→q11.21:)[2]
- no sSMC(7) in 3/10 metaphases; min(8)(:p11.21→q11.1:)[4]/ min(8)(:p11.1→q11.1:)[1] - no sSMC(8) in 5/10 metaphases; min(10)(:p11.21→q11.1:)[9] - no sSMC(10) in 1/10 metaphases |
cenM, subcenM | n.a. | {0} provided from Portugal |
| mult 3-13 |
n.a./ newborn |
PBL | n.a. | 49,XN,+mar1, +mar2,+mar3 | mar(1) mar(6) mar(9) possibly #17 material also in one complex sSMC |
aCGH | respiratory distress and suspected sepsis | {53} case 1 |
| mult 3-14 |
n.a./ prenatal |
AF |
n.a. | 49,XN,+mar1, +mar2,+mar3 | mar(13)(p?ter→q12.11:) mar(15)(p?ter→q11.1:) mar(20)(:p12.1→q11.21:)) |
aCGH ceps |
AMA, TOP |
{57} |
| mult 3-15 |
n.a./ postnatal |
PBL |
de novo | 49,XN,+mar1, +mar2,+mar3 |
r(X)(::p21.3→p21.1:) min(2)(:p11.2→q11.2:) min(14)(pter→q13.1:) |
aCGH FISH |
DD, DYS |
{0} |
| mult 3-16 |
female/ 1y |
PBL |
de novo | 49,XX,+mar1,+mar2,+mar3[22]/ 48,XX,+mar1,+mar2[28] |
mar1: der(19)(:p13.11→q11:)
mar2: der(19)(:p12→q12:) mar3: der(17)(:p11.2→q11.2:) aCGH (hg19): 17p11.2q11.2(21532484_27994177)x2-3 19p13.11p12(19606544_21964210)x3 19p12p12(21964256_23871690)x4 19q12q11(23872489_24507141)x3 |
aCGH FISH |
at birth
minor VSDs, failure to thrive from a
post-crichoid cushion - after surgery
normal growth. no
speech at 1y and DD |
{0} |
| mult 3-17 |
female/ 2y |
PBL |
de novo | 49,XX,+mar1,+mar2,+mar3[?100%] | min(8)(:p11.23→q12.1::q22.2→q22.3:) min(13 or 21)(:p11.2→q11:) min(16)(:p11.2→q12.1:) |
FISH |
DD, DYS |
{0}
provided from Germany |