ChromosOmics - Database

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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.


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 by Dr. Soler, Porto, 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}