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- sSMC -

McClintock-mechansim

References

 

by chromosomal origin

 

"In one of her seminal contributions Barbara McClintock describes the mechanism leading to the formation of ring/deleted chromosomes in maize and the aberrant mitotic behaviour leading to 'variable mutant characteristics'. This mechanism, a break within the centromere together with a break in either the long or the short arm, creating a small ring, has been called "centromere misdivision"; these authors propose that this be referred to as "the McClintock mechanism". McClintock also describes pachytene configurations in microsporocytes, showing that although the normal, deleted and ring chromosomes may synapse, the ring is also seen with the centromeric region attached to a non-homologous bivalent." (cited from Mantzouratou et al., Molecular Cytogenetics 2009, 2:3)

 

References

 
 

References


 
  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  
  McCl-
01-N-
p32/

1-1
male/
38y
PBL/
fibro-
blasts
n.a. 47,XY,del(1)(p32p36.1),
+mar1[87]/
47,XY,del(1)(p32p36.1),
+mar2[10]/
46,XY,del(1)(p32p36.1)[3]
(fibroblasts: 95/5/0; plus a t(X;4)(q23;q13))
mar1 = r(1)(::p32p36.1::)/
mar2 = r(1)(::p32
p36.1: :p23p36.1::)
pan-centromeric probe, telomeric probe, wcp1 probe; UPD-test infertility and oligospermia; otherwise normal male {1-5; 58}  
  McCl-
01-N-
p21/
1-1
n.a./
postnatal
PBL n.a. 47,XN,del(1)(p21p13),+mar) r(1)(::p21p13::) FISH n.a., presumably normal {59} 1 case  
  McCl-
01-N-
q23/
1-1
male/
prenatal
AF de novo 47,XY,del(1)(q23q32),
+mar[20]
r(1)(::q23q32::)
"dynamic mosaic" i.e. variants of sSMC were detected but not characterized in detail
wcp1; cep1/5/19; all centromere probe Amniocentesis due to advanced maternal age; no ultrasound abnormalities; pregnancy terminated. {3-6}  
  McCl-
02-O-
p12/

1-1
male/
adult
PBL de novo 47,XY,del(2)(p12p11.1),
+mar[100%]*
r(2)(::p12p11.1::)
FISH-data: RP11-316G9 = AC009958.3 (89.6 MB) and RP11-294I29 = AQ508381 (88.9MB) on sSMC
cen2, wcp2, YACs as specified in {11} Man was studied due to a child with a phenotype resembling Down-syndrome; child had karyotype 46,XY,del(2)(p10p12), {0}
{8}
 
  McCl-
02-N-
p21/

1-1
male/
14y
PBL de novo 47,XY,del(2)(p21p11),
+mar[100%]
r(2)(::p21p11::) wcp2, pan-centromeric probe; telomeric probe see below {3; 9-11}  
moderately mental retarded, at 32y weight and OFC at 25. centile; narrow forehead, broad supraorbital ridges, large mouth, marked hyperkyphosis, moderately hyperactive, IQ = 50.
  McCl-
02-N-
q22/

1-1
female/
postnatal
PBL
(EKF-
cellbank)
n.a. 47,XX,del(2)(q22q32.2),
+r(2)(q22q32.2)[81]/
46,XX,
del(2)(q22q32.2)[9]
n.a. n.a. mental retardation {12} 1case  
  McCl-
03-W-
p11/

1-1
male/
26y
PBL/
fibro-
blasts
de novo 47,XY,del(3)(p11q11),
+mar[28]/
46,XY,del(3)(p11q11)[12]
mar present in 100% of skin fibroblasts
min(3)(:p11q11:) wcp3; cep3 see below {13; 14; 15 case 1}  
The male was considered to have borderline mental retardation. and was detected due to his newborn daughter with developmental delay, hypertelorism, epicanthus. She inherited only the del(3) chromosome. Neocentromere formation in 3q26 on del(3) chromosome.
  McCl-
04-W-
p15.3/

1-1
male/
prenatal
AF de novo 47,XY,
del(4)(p15.3q21.1),
+r[96]/
46,XY,del(4)(p15.3q21.1)[4]
r(4)(::p15.3q21.1::) cep 4, sub-telomeric probe 4q; WHS probe see below {16}  
Amniocentesis due to ultrasound detection of advanced nuchal translucency, echogenic bowel, short femurs, mild ventricular dilatation; IUGR at 5. centile; at week 32 oligohydramnion; at week 33 no fetal movements and intrauterine death confirmed at week 34; on delivery bay 640g (<0.4 centile) and macerated; detectable were anal atresia, neck webbing, umbilical cord with two vessels
  McCl-
04-W-
p12/

1-1
female/
adult
PBL n.a.; same mar imbalanced in child 47,XX,+mar[67%]/
46,XX[33%]
47,XX,del(4)(p12q10),
+r(4)(::p12q10::)[66%]/
46,XX,del(4)(p12q10)[33%]*
size 4.4 MB
centr. probes, centr.-near probes; array CGH see below {17}
{18} case 7
 
child with mild speech delay; no dysmorphic features; normal motor development; Mother is intellectually normal with unilateral ear anomalies and mild visual deficiencies.
  McCl-
04-W-
q10/

1-1
female/
prenatal
AF de novo 47,XX,+mar[9]/
46,XX[5]
47,XX,del(4)(q11q13),
+r(4)(::q11q13::)[66%]/
46,XX,del(4)(q11q13)[33%]*
size 22 MB
array CGH see below {60}  
advanced maternal age; TOP
  McCl-
04-N-
q22.1/

1-1
male/
17y
PBL/
fibro-
blasts
de novo 47,XY,del(4)(q21.1q21.3),
+mar[75%]/
46,XY,del(4)(q21.1q21.3)[25%]*
r(4)(::q21.1q21.3::)*
sSMC derived from maternal chromosome 4
midi; telomeric probes, YACs; UPD-test see below {19; 3-5}  
neonatal eczema, multiple infections; studied due to Hyper-IGE syndrome with recurrent infections (HIES); motor, language, social and developmental milestones of patient delayed; mother of patient borderline to mental retardation, autism.
  McCl-
5-W-
p13/

1-1
male/
27y
PBL n.a. 47,XY,del(5)(p13q10),
+r[68]/
46,XY,del(5)(p13cen)[2]
r(5)(::p13q10:
:p13
q10::)
cep 1/5/19; YAC 897G2 see below {20}  
Birth weight 3500g (50th centile), OFC 38cm (>95. centile); length 50cm (25. centile); square asymmetric skull, plagioturricephaly, facial asymmetry, hypertelorism, epicantal folds, short and broad nose, long, deep philtrum, microretrognathism, high palate, low-set abnormal ears, clinodactyly 5, simian crease, hypotonia, omphalocoele, inguinal hernias, club feet; at 20m weight at 90. centile OFC >97. psychomotor development delayed.
  McCl-
05-W-
p11/

1-1
male/
prenatal
AF,
PBL
de novo 47,XY,del(5)(p11p13),
+mar[100%]
after array:  47,XY,der(5)(pter→p15.31:
:pter→p14.3::p11→qter),
+r(5)(::p11→q13.2::)
r(5)(::p11q13.2::)
array: 5p15.33-p15.31 (131,945-6,267,160)x3, 5p14.3-p13.2 (21,438,495-
36,736,934)x1,
5p12-p11 (42,529,343-
45,908,725)x3
BAC-FISH, aCGH amniocentesis due to advanced maternal age; normal male at birth and at 1.5y {54}  
  McCl-
06-O-
p22.3/

1-1
male/
43y
PBL n.a. 47,XY,del(6)(p10p22.3),
+r(6)(::p10→p22.3::)[100%]
r(6)(::p22.3q10::)* wcp6, cep 6, subtel 6p and 6q normal male apart from infertility {21}
{22} case 10
 
  McCl-
06-O-
p11.2~
p11.1/

1-1
female/
37y
PBL de novo 47,XX,del(6)(p11.2~p11.1q12),
+r(?6)[80%]/
46,XX[20%]
r(6)(::p10q12::)[60%]/
r(6)(::p11.2~p11.1

q12::)[20%]
midi/
subcenM
normal, but two abnormal children with mar {58}  
  McCl-
06-O-
p10/

1-1
female/
30y
PBL n.a. 47,XX,del(6)(p10q13),
+r(6)[?%]/
46,XX[?%]
r(6)(::p10q13::)
array: 77.23-96.63MB
MCB, aCGH normal, but one abnormal children with mar {55} mother of patient 2  
  McCl-
06-N-
q16.2/

1-1
male/
adult
PBL de novo? 47,XY,t(4;15),del(6)(q16.2q22.2),
+r(6)(::q16.2→q22.2::)[100%]
n.a. all centromeres, wcp probes, sub-telomere 6q mar detected due to phenotypically abnormal child of propositus; child had karyotype 46,t(4;15),del(6)(q16.2q22.2)[100%] {5; 23-24}  
  McCl-
07-N-
p22/

1-1
male/
2y
PBL de novo 47,XY,del(7)(p22q21.2),+r(7)(p22q21.2)
cep 7 DD, DYS, growth retardation {62}  
  McCl-
07-N-
q22/

1-1

male/
newborn

AF/
PBL

de novo AF: 47,XY,+r(7)(q22q31)[10]/46,XY[7]
PBL: sSMC only in 28% of cells
unusual complex McClintock mechanism
M-FISH
aCGH
DD, DYS, growth retardation, MR {63}  
  McCl-
08-O-
p11.1/

2-1
male/
adult
PBL de novo 47,XY,del(8)(p11.1q12.1),+r(8)(p11.1q12.1)[18]/
46,XY[2]
r(8)(::p11.1q12.1::)*
neocentromere in 8p22 in der(8)
 array-CGH, cep 8 normal male, sSMC detected due to child with clinical abnormalities due to lacking sSMC {25; 53; 58}  
  McCl-
09-N-
q31/

1-1
female/
adult
PBL n.a. 47,XX,del(9)(q31q33),+r(9)(q31q33)[60%]/
46,XX,del(9)(q31q33)[40%]
r(9)(::q31q33::) array CGH; BAC FISH mild degree of mental retardation (IQ 69); sSMC detected due to child with a 46,XY,del(9)(q31q33)[100%] and mild psychomotor retardation {30}  
  McCl-
09-N-
q10/
1-1
female PBL n.a. 47,XX,del(9)(q10porq?),+r(9)(q10porq?) n.a. wcp 9 mental retardation {56}  
  McCl-
10-W-
p11.23/

1-1
male/
4y10m
PBL inv dup (13 or 21) paternal derived 48,XY,del(10),+r(?10),
+inv dup(acro)[100%]
double rings in 4-8% of the cells
del(10) = der(10)(pterp11.23:
:q23.2
qter)
r(?10) = r(10)(::p11.23
q23.2::)
inv dup(acro) = inv dup(13or 21)
cep10, 13/21; 14/22; 15; 5 different alpha sat.- probes; satIII probe see below {3-4; 10; 31-39}  
developmental delay at 4y, delayed speech development, normal motor activity, not dysmorphic; height, length and HC ~25. centile
  McCl-
10-N-
q11/

1-1
female/
1w
AF/
fibro-
blasts
de novo 47,XX,del(10)(q11q23),+mar[62%]/
46,XX,del(10)(q11q23)[38%]
(sSMC in 80% of fibroblasts)
?min(10)(:q11q23:)
(without detectable telomeres)
alpha-, beta-satellite satIII,telomeric, all wcp, YAC-probes (not specified) see below {26} case 8
{3-5, 10}
 
mental retardation and/or developmental delay or structural anomalies detected at birth
  McCl-
11-O-
p15.1/

1-1
female/
newborn
PBL
fibro-
blasts
maternal PBL: 47,XX,del(11)(p11.1p15.1),
+r(11)(p11.1p15.1)[70%]/
46,XX,del(11)(p11.1p15.1)[30%]
In Fibroblasts: marker in 50%
cep 11 see below {40}  
severely dysmorphic; Turner-like phenotype with classical bilateral aniridia, microcephaly, Fallot tetralogy; mother with aniridia as well - here mar in 70% of the blood cells; otherwise normal
  McCl-
11-N-
p11.2/

1-1
female/
adult
PBL n.a. 47,XX,del(11)(p11.12p11.2),+mar[100%] r(11)(::p11.12p11.2::) n.a. normal - sSMC detected due to clinical abnormalities in a child {5; 7}  
  McCl-
12-U
p13.1/
1-1
female/
3m
PBL maternal 47,XX,del(12)(p13.1→q10),+r[100%] r(12)(::p13.1q10::) wcp12 mother normal?; child? {27}  
  McCl-
13-N-
q12.3/

1-1
male/
29y
PBL n.a. 47,XX,del(13)(q12.3q22),
+mar[97]/46,XX,del(13)(q12.3q22)[3]
r(13)(::q12.3q22::) wcp, array-CGH normal male; fertility problems {51; 57; 58}  
  McCl-
13-N-
q21.31/

1-1
female/
32y
PBL de novo 47,XX,del(13)(q21.32q22.2),
+mar[100%]
r(13)(::q21.31q22.2::) midi; telomeric probe normal female; sSMC detected due to 3 miscarriages {4-5, 29-30; 42}  
  McCl-
13-N-
q31.1/

1-1
male/
1m (?)
PBL de novo 47,XY,del(13)(q31.1q32.3),
+r(13)(::q31.1q32.3::)[50%]/
46,XY,del(13)(q31.1q32.3)[50%]
r(13)(::q31.1q32.3::) BAC-probes see below {5; 28}  
moderate intellectual disability associated with distinctive hand malformations (hypoplastic and angel-shaped middle phalanges) and partial growth hormone (GH) deficiency at 13 y
McCl-
14-N-
q12/
1-1
female/
18y
PBL n.a. 47,XX,del(14)(q12q24.3),
 +r(14)(q12q24.3)
sequencing;
FISH
MR, DD, tetraplegia, osteoporosis, no speach, seizures, DYS {61}
McCl-
15-N-
q11.1/
1-1
male/
14y
PBL n.a. 47,XY,del(15)(q11.1q21.1),
+r(15)(q11.1
q21.1)
FISH Marfan syndrome like
infertile
{63}
  McCl-
16-W-
p10/

1-1
female/
23y
PBL n.a. 47,XX,del(16)(p10q13), +r(16)(::p10→q13::)[100%]* n.a. n.a. see below {43}  
mild general hypotonia, HC 51cm = very small; bow shaped mouth, abnormal posteriorly rotated ears; apart from that normal; detected due to a malformed child without the mar but with the del(16) chromosome
  McCl-
17-O-
p11.2/

2-1
female/
26y
PBL/
fibro-
blasts
de novo 47,XX,del(17)(p11.2q10)
+min(17)(:p11.2→q10:) [89]/
46,XX,del(17)(p11.2q10)[11]
in fibroblasts mar in 62/72
n.a. n.a. normal female; mar detected due to a daughter with partial del. and son with partial dup of 17p11.2-q10 {44- 46; 58}  
  McCl-
17-U-
p10/
1-1
female/
82y
PBL
skin
fibro-
blasts
de novo 48,XX,del(17)(p10q11.2),+r[2%]/ 47,XX,del(17)(p10q11.2),+r[~75%]/ 47,XX,del(17)(p10q11.2),+r(dic)[12%]/ 47,XX,del(17)(p10q11.2),+mar[~5%]/
46,XX,del(17)(p10q11.2)[6%]*
similar in blood and fibroblasts;
marker derived from (17)(p10q11.2) centromeric probe for chromosome 17 see below {47}  
no congenital malformations; suffering from neurofibromatosis type 1 since age of 40y; neither her parents nor her children had NF1. Children with normal karyotypes.
  McCl-
19-W-
p10/

1-1
male/
1m(?)
PBL maternal 47,XX,del(19) (p10q13.2),+r(19) 47,XY,+r[100%] r(19)(::p10q13.2::)* FISH probe wcp 19 see below {48}  
Delivery  in week 37 because of maternal blood hypertension; birth weight 2280g; overweight syndrome at 3-4y → every mensurartions were more than 3S.D. except for the length. Additionally macrocephaly, hypertelorism, antimongoloid slants, bluish ring around the eyes, globular prominent nose, abnormal mouth, large ears, arms and legs short and podgy, mental retardation (DQ=69)
  McCl-
22-O-
q11.1/

1-1
female/
44y
PBL n.a. 47,XX,del(22)(p11.1q11.2)
+mar[16]/
46,XX,del(22)(p11.1q11.2)
r(22)(::q10q11.2::) DiGeorge CR-probe; array-CGH normal female; mar detected due to repeated children with heart defects {52; 58}  
  McCl-
22-W-
q11.2/

2-1
male/
infant
PBL maternal
47,XX,del(22)(q11q11.2),
+r(22)(q10q11.2)
47,XY,+mar[100%] r(22)(::q10q11.2::) cep probes; TUPLE1 probe CHARGE association {49}  
  McCl-
0X-W-
p21/

2-1
female/
1y
PBL de novo 47,X,del(Xq),+r[20%]/
46,X,del(Xq)[80%]
in fibroblasts. 40/10
del(X) = der(X)(pterq21.1:
:p21
pter)
r = r(X)(::p21

q11~12::)
cep X; wcp X; pericentric probes; STS, KAL; UBE1XIST specific probe see below {50}  
pregnancy and birth normal; birth weight 30. centile; length 10. centile;  OFC 25. centile; syndactyly of right finger 3 and 4 and left toes 4 and 5; cardiac murmur due to ventricular and artrial septal defect and patent ductus arteriousus plus pulmonary stenosis; agenesis of corpus callosum, mild cerebral ventricular dilatation; a t 1y severely handicapped, no speech, hypotonia, broad face, short neck, prominent forehead, telecanthus, convergent strabismus, small abnormal nose, prominent inverted V-shaped upper lip, short philtrum, low set and mildly posteriorly rotated ears