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-
multiple sSMC
-
- from 4 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 4-1 |
female/ 1m |
PBL | de novo (?) paternal chrs. not tested | 47-50,XX,+1-4mar/ 46,XX |
r(4)[77%] r(8)[46%] r(10)[13.5%] r(X)[13.5%] (cep+ and wcp+) |
all centromeric probes and wcp probes | see below |
{1} case 2 |
| Child born at term; child appeared hypotonic with hypertelorism, micrognathia and full neck. Developmental milestones were reached at appropriate age at 35m , 3y and 4y. Exception: gross motor delay caused by excessive joint laxity. At 4y slim build and slightly long face with epicantic folds. | ||||||||
| mult 4-2 |
male/ 7m |
PBL | de novo | 52,XY,+marx6[1]/ 51,XY,+marx5[15]/ 50,XY,+marx4[19]/ 49,XY,+marx3[13]/ 48,XY,+marx2[2] |
mar
1 = r(7)[82%] mar 2 = r(15)[74%] mar 3 = r(22) mar 4 = r(22)[64%] mar 3+mar 4 [6%] mar 5+mar 6 = r(?5) no clear clarification of mosaic status |
SKY; telomeric probes |
developmental delay, poor feeder, marked hypotonia, macroglossia, low set ears | {9} case 1 |
| mult 4-3 |
male/ 58y |
PBL | n.a. | see below | min(1) min(5) min(6) min(7) no clarification of mosaic status |
SKY | detected due to fragile X suspicion according to following symptoms: mental retardation, impaired speech, dysmorphic features | {9} case 2 |
| 51,XY,+mar1-3,+mar5-6[1]/50,XY,+mar1-4[1]/50,XY,+mar2-3,+mar5-6[1]/49,XY,+mar1-3[19]/49,XY,+mar2-4[1]/ 49,XY,+mar2-3,+mar5[1]/48,XY,+mar1-2[5]/48,XY,+mar2-3[9]/47,XY,+mar1[1]/47,XY,+mar2[4]/47,XY,+mar3[2]/46,XY[5] |
||||||||
| mult 4-4 |
female/ prenatal |
AF/PBL | de novo | 51,XX,+5mar[?%]/ 50,XX,+4mar[majority]/ 49,XX,+3mar[?%]/ 48,XX,+2mar[?%] |
mar
1 = der(11)r(4;11)(::11q11→11q12.1: :4q12::) mar 2 = der(7)(:p11.1:) mar 3 = der(1)(:p12:) mar 4 = der(X)(:p11.1→q11.1:) |
array CGH; SKY | see below | {30} case 4 |
| prenatal: bilateral cleft lip anomaly, ventriculomegaly, and possible agenesis of the corpus callosum. At birth, bilateral cleft lip anomaly, flattened nasal profile (nasomaxillary hypoplasia), upslanting palpebral fissures. MRI of brain showed fusion of the frontal lobes and thalami, partial agenesis of the corpus callosum, consistent with a semilobar holoprosencephaly. Echocardiogram: normal intracardiac structure with patent ductus arteriousus | ||||||||
| mult 4-5 |
male/ 30y |
PBL | de novo | 50,XY,+mar1,+mar2, +mar3,+mar4[100%] |
min(6)(:p11.1→q11.1:) min(8)(:p11.1→q11.1:) min(11)(:p11.11→q11:) min(12)(:p12.1→q10:) |
cenM, subcenM | see below | {35} |
| born after 39 gestational weeks by caesarean section because of macrosomy showing a weight of 4,250 gr (p<), and an Apgar of 3, needing intensive reanimation. With 5 hours of life he suffered apnea for two minutes, as well as hypoglucemia and hypocalcemia that were treated having good respond and never happened again. Clinical examination showed bilateral cryptorchidism. During pregnancy the only relevant fact to be consider was that the mother was treated with Diazepam in late pregnancy. When the child was 19 months old, his weight and length were 2DS below normality. The child in his evolution showed psychomotor delay, starting deambulation when he was 22 months old, and a bilateral convergent strabismus. When he was 10 years old, the testes were surgery descended. And at 13 years old, the strabismus was also corrected. At school he was always having slight learning difficulties, with normal social behaviour. Later on, he never study, becoming a painter. When he was 22 years old, with no facial dysmorphism, was remitted to a Genetic Laboratory (“unknown laboratory”) showing a weight of 89 kg (p<), a length of 165 cm (p<) and a Corporal index mass of 32.7. He had hypogenitalism, with a short thick penis (6cm), and testes with 8 and 10 cc. He has multiples hyperpigmented nevi all over his body (Fig. ) showing no sign of malignancy after biopsy. He also has a left vesicoureteral reflux grade III, with a normal renal function. The cardiologic, audition and fundus of the eye examinations were normal. Blood biochemistry was normal. | ||||||||
| mult 4-6 |
male/ 7y |
PBL | de novo | 50,XY,+mar1,+mar2, +mar3,+mar4[100%] |
r(5) min(?) min(?) min(?) |
SKY | see below | {39} |
| At birth: weight 2920 g (25th centile), length 52 cm (25th-50th centile), occipital frontal circumference (OFC) 33.5 cm (<3rd centile). At 7y height 101 cm (<3rd centile), weight 16 kg (<3rd centile), head circumference 47 cm (<25th centile); intellectually impaired, delayed milestones, facial dysmorphism, microcephaly, flat occiput, short philtrum, drooling of saliva, epicanthic folds, downward slanting palpebral fissures, depressed nasal bridge and cafeaulait spots. | ||||||||
| mult 4-7 |
female/ 7m |
PBL | de novo | 47,XY,+mar1[4] 48,XY,+mar1,+mar2[13]/ 49,XY,+mar1,+mar2, +mar3[27]/ 50,XY,+mar1,+mar2, +mar3,+mar4[4] |
After
FISH:all cells with mar1, mar 2 and mar3;
85% also with mar4 mar1 = mar(4)(:p12→q12:) mar2 = mar(8)(p11.21→q11.1) mar2 = mar(13)(pter→q12.11) mar4 = mar(5)(:p13.2→q11.2:) #4: 46.04-58.46MB #5: 35.98-58.15MB #8: 40.62-43.05MB #13: 0.0-22.14MB |
ceps, aCGH, MLPA | mental retardartion, developmental delay, facial abnormalities,. abnormal placed anus, ASD | {0} provided from Spain |
| mult 4-8 |
male/ adult |
PBL | n.a. |
47-50,XY,+1-4mar[70%]/ 46,XY[30%] |
min(3)(:p11.1→q11.1:) r(6)(::p11.2→q11.1::) r(9)(::p11.2→q12::) min(13)(pter→q12:) | cenM, subcenM | normal male | {0} provided from Serbia |
| mult 4-9 |
male/ 24y |
PBL | ?de novo | 50,XY,+mar1,+mar2, +mar3,+mar4[5]/ 49,XY,+mar1,+mar2, +mar3[99]/ 48,XY,+2mar[70]/ 47,XY,+1mar[22]/ 46,XY[3] |
mar1
= r(11)(::p11.12→q12.1::) mar2 = r(12)(::p11.1→q11::) mar3 = r(X)(::p11.1→q12::) mar4 = ?? #11: 50.71-56.74MB #12: 34.44MB - cep X: cep - 64.82MB |
ceps, aCGH UPD test |
mild intellectual delay; obesety from 7y of age on; ASD, dysplastic aortic and pulmonary valves, club foot left, bilateral inguinal hernias, unilat. cryptochidism, assymm. growth of lower legs | {43; 45} |
| mult 4-10 |
female/ newborn |
PBL | de novo | 50,XX,+mar1,+mar2, +mar3,+mar4/ 49,XX,+mar1,+mar2, +mar3/ 48,XX,+2mar/ 47,XX,+1mar |
mar1
=r(X) [100%] mar2 = r(8) [79%] mar3 = r(14 or 22)[58%] mar4 = r(15)[10%] |
ceps | small size, microcephaly, facial asymmetry, hemangioma, right ptosis, hand anomalies, 11 ribs, hip dislocation, seizures, scoliosis | {15} case 22 |
| mult 4-11 |
female/ prenatal |
AF or CH or fibroblasts | de novo | 48–50,XX,+mar1,+mar2,
+mar3,+mar4 mar3 and mar 4 not present in all cells |
mar1
= min(X)(:p11.21→q11.1:) mar2 = min(X)(:p11.22→q12:) mar3 = min(5) (:p12→q12.1:) mar4 = min(12)(:p11.1→q12:) |
aCGH, wcp, ceps | small heart with many defects | {55} case
P19 |
| mult 4-12 |
male/ newborn |
PBL | de novo | 50,XY,+mar1,
+mar2, +mar3, +mar4[16]/ 49,XY,+mar1, +mar2, +mar3[28]/ 48,XY,+mar1,+mar2[48]/ 47,XY,+mar1[8] |
mar
1 = der(19) mar 2 = der(11) mar 3 = mar1 mar 4 = der(11;19) #11: 48.84-58.75MB #19: 23.36-34.85MB |
aCGH, cep probes | IUGR; oligohydramnion; birth weight at 23rd centile, lenght at 52nd, OFC at 36th; at 3m: hypersomnia. pneumonia, hypotonia, dysmorphic face and others | {38} |