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sSMC formed by
pseudo-McClintock-mechanism -
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by chromosomal origin for sSMC formed by pseudo-McClintock mechanism
| sSMC 1 |
sSMC 2 |
sSMC 3 |
sSMC 4 |
sSMC 5 |
sSMC 6 |
sSMC 7 |
sSMC 8 |
| sSMC 9 |
sSMC 10 |
sSMC 11 |
sSMC 12 |
sSMC 13 |
sSMC 14 |
sSMC 15 |
sSMC 16 |
| sSMC 17 |
sSMC 18 |
sSMC 19 |
sSMC 20 |
sSMC 21 |
sSMC 22 |
sSMC X |
sSMC Y |
References
| by
chromosomal
origin for sSMC formed by
McClintock mechanism |
|
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. |
| 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 |
mar(:1q32→qter) possibly inv dup |
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)(qter→q33: :q33→qter) |
aCGH; FISH | see below | {3} |
| growth retardation, distinctive facial features; weight at birth 22 kg (~0.4th percentile),[nbsp] at 2 y: developmental delay, mild facial dysmorphic features including ocular hypertelorism, epicanthus, upslanted palpebral fissures, flat nasal bridge, and protruding ear | ||||||||
| 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)(:p22.2→q11:) | 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)(pter→p12: :p12→pter) | 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- 11- N- q21/ 1-1 |
male/ newborn |
PBL fibros |
de
novo |
47,XX,del(11)(q21),+mar[100%] | inv dup(11)(q21) | n.a. | DD;
MR, DYS |
{25} |
| 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)(qter→q22::q22→qter) | 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- 13- N- q12/ 1-1 |
female/ 10m |
PBL |
de novo | 47,XX,del(13)(q21),+inv dup(13)(qter→q21::q21→qter)[100%] | inv dup(13)(qter→q21::q21→qter) | 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)(qter→q32.3::q32.3→qter) | M-FISH, CGH | n.a. | {0} case
from Spain |
| PsMcCl- 14- N- q32.1/ 1-1 |
female/ 1w |
PBL | de novo | 47,XX,del(14)(q32.1qter), +mar[100%] | inv dup(14)(qter→q32.1: 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)(qter→q22: :q22→qter) |
wcp, MCB | advanced maternal age, normal child born | {0} |
| PsMcCl- 15- N- q25.3/ 1-1 |
female/ adult |
PBL |
n.a. |
47,XX,del(15)(q25.3),+mar[100%] | min(15)(:q25.3→qter) | FISH | normal;
but child with 2 normal chrs. 15 and sSMC |
{26} |
| PsMcCl- 16- N- p11.2/ 1-1 |
male/ prenatal |
AF | de novo | 47,XY,i(16)(q10),+mar[15] | min(16)(pter→p11.2:) | 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- p11.2/ 1-1 |
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 |
min(17)(::p11.2→q10::) | n.a. | normal female; mar detected due to a daughter with partial del. and son with partial dup of 17p11.2-q10 | {21-24} |
| PsMcCl- 17- O- q22/ 1-1 |
male/ 1w |
PBL | de novo | 47,XY,del(17)(q22q23),+mar[100%] | inv dup(17) (:q22→q23: :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- W- pter/ 1-1 to 1-2 |
see 18-Wi-43 and 18-Wi-45 - similar as other cases listed here; maybe the same type | |||||||
| 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)(pter→p11.2: :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. | ||||||||
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