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sSMC formed by pseudo-McClintock-mechanism - different CHROMOSOMES

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References

 

 

by chromosomal origin for sSMC formed by pseudo McClintock mechanism

 
It turned out that, similar to McClintock mechanism with ring chromosome formation, there are cases which seem to evolve by a related mechnaism, called Pseudo-McClintock mechansim.
 

References

SMC McClintock mechanism - no ring chromosome formation

 

References

SMC McClintock mechanism - no ring chromosome formation

 

 
  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  
  PsMcCl-
01-N-
p32/

1-1
female/
9m
PBL de novo 47,XX,del(1q32),+mar(:1q32→qter)
possibly inv dup
n.a. n.a. see below {1;2}  
  At month 3 of pregnancy mother had a virus infection; at month 6 she was treated for abortus imminens; birth at end of month 8; w: 1900g, l: 43cm, respiratory distress, failure to thrive; At 9m MR, congenital hydrocephalus, VSD, abnormal immunoglobulin.  
  PsMcCl-
02-N-
q33/

1-1
female/
2y
PBL de novo 47,XX,del(2)(q33),+mar[100%] inv dup(2)(qterq33:
:q33qter)
aCGH; FISH see below {3}  
  growth retardation, distinctive facial features; weight at birth 22 kg (~0.4th percentile),  at 2 y: developmental delay, mild facial dysmorphic features including ocular hypertelorism, epicanthus, upslanted palpebral fissures, flat nasal bridge, and protruding ear  
  PsMcCl-
03-
                 
  PSMcCl-
04-
                 
  PsMcCl-
5-
                 
  PsMcCl-
06-
                 
  PsMcCl-
07-
                 
  PsMcCl-
08-O
                 
  PsMcCl-
09-U-
p22.2/

1-1
male/
3y
PBL de novo 47,XY,del(9)(p22.2),+mar[24]/
46,XY,del(9)(p22.2)
der(9)(:p22.2q11:) aCGH DD, dysmorphisms {4}  
  PsMcCl-
09-N-
p12/

1-1
male/
1w
PBL de novo 47,XY,del(9(p12),
+mar[100%]
inv dup(9)(pterp12: :p12pter) alpha-, beta-satellite satIII probes, telomeric probe, all wcp probes, YAC-probes (not specified) mental retardation and/or developmental delay or structural anomalies detected at birth {5} case 7
{6; 7; 8; 9; 10, 11 - case 1; 12}
 
  PsMcCl-
10-
                 
  PsMcCl-
11-N-
q22/
1-1
male/
1w
PBL/
fibroblasts
de novo 47,XY,del(11)(q22),+mar[100%]
(sSMC in fibroblasts 100%)
inv dup(11)(qterq22::q22qter) alpha-, beta-satellite satIII probes, telomeric, all wcp, YAC-probes (not specified) mental retardation and/or developmental delay or structural anomalies detected at birth {5} case 6
{6; 8; 10; 12}
 
  PsMcCl-
12-
                 
  PsMcCl-
13-N-
q12/
1-1
female/
10m
PBL de novo 47,XX,del(13)(q21),+inv dup(13)(qter→q21::q21→qter)[100%] probes as specified in {13} low birth weight, brachycephaly, microcephaly, thick eyebrows and curly eyelashes, bil. microphtalmia, developmental delay, bil. postaxial polydactyly {14} case 13b
{8; 13}
 
  PsMcCl-
13-N-
q32.3/
1-1
female/
postnatal
AF n.a. 47,XX,del(13)(q32.3),
+mar[100]
inv dup(13)(qterq32.3::q32.3qter) M-FISH, CGH n.a. {0} case provided by Dr. C. Fuster (Spain)  
  PsMcCl-
14-N-
q32.1/

1-1
female/
1w
PBL de novo 47,XX,del(14)(q32.1qter), +mar[100%] inv dup(14)(qterq32.1:
q32.1
qter)*
wcp 14 see below

{6; 8; 10; 12; 15-16}

 
at birth (40 weeks of gestation): length 46.5cm; weight 2700g, OFC 34cm; facial deformities, hypertelorism, epicanthus, antimongoloid slant, deformed ears, broad base of nose, curly blond hair; marked hypertonia and jittering; subarachnoid hemorrhage over cerebral convexity; severe sleeping disorder developed during 1. year; delayed psychomotor development; at 5y normal muscle tone but marked mental deficit esp. in speech and concentration ability.
PsMcCl-
15-N-
q22/
1-1
female/
prenatal
AF de novo 47,XX,+mar[1]/
47,XX,del(15)(q22) or t(15;?)(q22;?),+mar[1]/
46,XX[30]
inv dup(15)(qterq22:
:q22
qter)
wcp, MCB advanced maternal age, normal child born {0}
PsMcCl-
16-N-
p11.2/

1-1
male/
prenatal
AF de novo 47,XY,i(16)(q10),+mar[15] min(16)(pterp11.2:) SKY; region-specific PAC and BAC probes (acc. to {17}) see below {12; 17}
in week 32 of gestation: IUGR, cardiac malformations (pulm. arterial hypoplasia with large septal defect), megacystis; TOP in week 35; autopsy revealed additionally antimongoloid palpebral fissures, maxillary hypoplasia, beaked nose, camptodactyly of both hands, hallux vagus of right foot, ambiguous external genitalia, megacystis with urethral stenosis, left pulmonary isomerism, veriam and olfactory bulb hypoplasia
PsMcCl-
17-O-
q22/

1-1
male/
1w
PBL de novo 47,XY,del(17)(q22q23),+mar[100%] inv dup(17) (:q22q23:
:q23
q22:)
n.a. see below {10; 12; 18}
small placenta, bifurcation at the base of the umbilical cord of 1cm in length; birth at 38 weeks of gestation; baby initially hypotonic; APGAR 3/6/10; sacral dimple with hair tuft over base of the spine, low set ears, high arched palate, bilateral undescended testes, slight hypotonia, high pitched cry, large open anterior fontanel, wide split between big ans 2. toe, syndactyly 2. and 3. toe
  PSMcCl-
18-
see 18-Wi-43 and 18-Wi-45 - similar as other cases listed here; maybe the same type  
  PsMcCl-
19-
                 
  PsMcCl-
20-W-
p11.2/

1-1
female/
3y
PBL; fibroblasts de novo 47,XX,del(20)(qter→p11.2:),+inv dup(20p)[100%] inv dup(20)(pterp11.2:
:p11.2
pter)
pan- centromeric probe; various FISH-probes for #20 see below {10; 12; 19; 20}  
  postnatal: congenital heart disease (VSD), minor anomalies; pulmonary atresia; at 3.1 y mild brachycephaly; height and weight an 90-97th centile; OFC on 75th centile; epicanthic folds, long philtrum, both hands slightly stubby; clinodactyly of 5th finger; mild developmental delay; died at 5y for unclear reasons.  
  PsMcCl-
21
                 
  PsMcCl-
22-
                 
  PsMcCl-
0X-
                 
PsMcCl-
0Y-