sSMC derived from chromosome 18
|
Cases without clinical findings |
13 44% |
Cases with clinical findings |
15 56% |
|
i(18p)
syndrome |
164 |
| In general 70% of sSMC carriers are clinically normal. The figures here are based partially on the bias, that mainly clinically aberrant cases are reported in literature! |
|
|
In the
following, the data for the
chromosome shown on this sub-page
is summarized schematically. |
acc. to UCSC Genome Browser on Human Mar. 2006 assembly
and available BAC-data/ array-data from cases mentioned below [MB]:
p-tel --- critical region ? --- 13.03 uncritical region [15.4 centromere 16.8] uncritical region ? --- 19.43 critical region --- q-tel
_______________________________________________________________________________________
Patient support group:
Chromosome 18 registry & research
society: http://www.chromosome18.org
_______________________________________________________________________________________
UPD (uniparental disomy)
cases
UPD 18 maternal
UPD 18 paternal
_______________________________________________________________________________________
Cases without clinical findings (O):
|
case no. |
gender |
age at diagnosis |
studied |
de novo/ |
GTG-banding result |
final FISH result of the sSMC |
FISH |
UPD |
clinical symptoms |
reference |
| 18-O- p11.22/ 1-1 |
female | prenatal | AF PBL | n.a. | AF:
47,XX,+mar[35%]/ 46,XX[65%] PBL: 47,XX,+mar[4]/ 46,XX[11] |
min(18)(:p11.22→q11.1:)[10]/ min(18)(:p11.22→q11.1::q11.1→p11.22:)[1] FISH-data: RP11-151D11(13.08MB) on sSMC |
cenM; subcenM; |
n.a. | advanced maternal age, ultrasound normal in week 19+3; normal child born and normal at 10 and 16m; height at 16M at 10th centile = typical for family | {0} case provided of Drs. Prager and Junge, Dresden, Germany |
| 18-O- p11.21/ 1-1 |
female | 35y | PBL | n.a. | 47,XX,+mar[23]/ 46,XX[17] |
min(18)(:p11.21→q11.1:) FISH-data: RP11-151D11(13.08MB) on sSMC |
cenM; subcenM; |
n.a. | ICSI-patient of 36 years; primary sterility; she had a surgery at the age of 7 due to a artrial septal defect | {1} case 27 {104} case 95 |
| 18-O-p11.21/ 1-2 |
male | 6y | PBL | maternal (mar in ~26%) |
47,XY,+mar[21]/ 46,XY[2] 12 years later mar only in 25/34 |
FISH: min(18)(:p11.21→q11.1:) array + FISH: min(18)(:p11.22→p11.21:) FISH-data: RP11-151D11(13.08MB) on sSMC array: 13.99MB - centromere |
cenM; subcenM; array CGH |
n.a. | normal healthy young man; mother healthy as well | {88} case A;
mother case B {95} case 11 |
| 18-O-p11.21/ 1-3 |
female | 31y | PBL | n.a. | 47,XX,+mar[26]/ 46,XX[14] |
FISH: min(18)(:p11.21→q11.1:) breakpoint in 18p between clone RP11-794M8 (13.03MB) and RP11-411B10 (13.99MB) |
cenM; subcenM; BAC RP11-411B10 |
n.a. | normal healthy young woman | {0} case provided of Drs. Wagner and Stibbe, Hannover, Germany |
| 18-O-p11.21/ 1-4 |
female | adult | PBL | paternal | 47,XX,+mar[80%]/ 46,XX[20%] |
mar(18)(:p11.21→q11.1:) size 1 MB |
subcenM with 3 BACs, array-CGH | n.a. | Difficulty conceiving; marker also found in the patients normal father; patient delivered a daughter who also had the marker chromosome and is thought to be normal. | {98} case 18 |
| 18-O-p11.21/ 1-5 |
n.a. | prenatal | AF | de novo | 47,XX,+mar[100%] |
mar(18)(:p11.21→q11.1:) size ~2.6MB |
subcenM with 3 BACs, array-CGH | n.a. | At 4 months of age, patient appears normal with no dysmorphic features or developmental delay (marker detected on amniocentesis for AMA | {98} case 19 |
|
18-O-p11/ 1-1 |
male |
prenatal |
CH, AF, chord PBL | de novo | 47,XY,+mar/ 46,XY CH: mar in 18/26 AF: mar in 9/80 PBL. mar in 2/100 |
r(18)(::p11→q11::) | FISH with all available centromeric probes, wcp 18 | n.a. | CVS and AF for prenatal diagnosis due to advanced maternal age; child born at term (birth weight: 3,152 g) and at 6 months of age was phenotypically and developmentally normal. | {70} case 9 |
|
18-O-p11.1/ 1-1 |
female |
prenatal |
AF |
mat (mar in 26%) |
47,XX,+mar[?%]/ 46,XX[?%] Interphase: 65% of 200 cells |
min(18)(::p11.1→q11.1::)* | FISH with centromeric probes | n.a. | normal child born; normal at 6m | {110} |
O-Cases with centromere-near imbalances NOT caused by sSMC (IMB):
|
case no. |
gender |
age at diagnosis |
studied |
de novo/ |
GTG-banding result |
FISH |
UPD |
clinical symptoms |
reference |
|
18-O-IMB-pter/ mult |
>20 patients with dup 18p and (almost) no symptoms {115} |
{100} 3 cases {101} {102} 2 cases {103} 9 cases {107} 1 case {115} |
|||||||
|
18-O-IMB-q11/ 1-1 |
male or female |
postnatal |
PBL | familial ins(11;18)(p15;q11q21) | 46,der(11)(11pter→11p15::18q11→q2.1::p15→qter) | none | n.a. | see below | {106} |
|
one carrier normal, two carriers slightly mentally retarded |
|||||||||
|
18-O-IMB-q11.2/ 1-1 |
n.a. |
prenatal |
AF | maternal ins(18)(p13.2q1.2q11.2) | 46,der(18)(pter→p11.32::q12.2→q11.2::p11.32→qter) | MCB | n.a. | see below | {105} |
|
normal at age of three months |
|||||||||
O-Cases with unclear/insufficient characterization of the sSMC itself (CO):
|
case no. |
gender |
age at diagnosis |
studied |
de novo/ |
GTG-banding result |
final FISH result of the sSMC |
FISH |
UPD |
clinical symptoms |
reference |
| 18- CO-1 |
female | prenatal | AF/PBL | de novo | 47,XX,+mar[820]/ 46,XX[180] |
min(18) | all available centromeric probes | n.a. | see below | {23} case 2 |
|
Amniocentesis due to advanced maternal age; newborn with alcohol abuses syndrome (low weight, developmental delay, microcephaly, mitral stenosis) |
||||||||||
| 18- CO-2 |
female | 28y | PBL | n.a. | 47,XX,+mar[2]/ 46,XX[98] |
r(18) | all available centromeric probes | n.a. | Ring chr. detected due to transmission to clinically affected daughter with karyotype 46,XX,r(18) | {29} |
|
18- CO-3 |
female |
11y |
PBL | de novo | 47,XX,+mar[85%]/ 46,XX[15%] |
r(18) | FISH with all available centromeric probes | n.a. | normal at age of 12y apart from eventually familial short stature | {8} case 9 |
|
18- CO-5 |
female |
prenatal |
AF | de novo | 47,XX,+mar[6]/ 46,XX[9] |
mar(18) | wcp 18? | n.a. | Advanced maternal age; normal sonography, normal at birth | {86} case 66 |
|
18- CO-6 |
female |
padult |
PBL | n.a. | 47,XX,+mar[?%]/ 46,XX[?%] |
min(18) | wcp 18? | n.a. | normal female; mar detected due to mar presence in unborn child. | {86} mother of case 73 |
_______________________________________________________________________________________
Cases with clinical findings (W):
|
case no. |
gender |
age at diagnosis |
studied |
de novo/ |
GTG-banding result |
final FISH result of the sSMC |
FISH |
UPD |
clinical symptoms |
reference |
| 18-W-pter | see 18-U-10 | |||||||||
| 18-W-p11.21/ 1-1 |
n.a. | postnatal | PBL | n.a. | 47,+mar[68%]/ 46[34%] |
min(18)(:p11.21→q11.2:)* distal clone in 18p RP11-756J15 (13.17MB) distal clone in 18q RP11-639E23 (19.34MB) |
array-CGH | n.a. | see below | {91}
case 11 {109} case 8 |
|
developmental delay, dysmorphic features |
||||||||||
|
18-W-p11.1/ 1-1 |
moved to 18-U-23 - see below | |||||||||
| 18-W-p11.1/ 2-1 |
female | 1m | PBL | de novo | 47,XX,+mar[15] | min(18)(:p11.1→q11.2:) | cenM; subcenM; MCB |
n.a. | child without visible clinical signs; hyperbilirubinemia; artrial septal defect; open ductus botalli | {75} case 18-2 |
|
18-W-p11.1/ 3-1 |
female | 13y | PBL | de novo | 47,XX,+mar[70%]/ 46,XX[30%] |
min(18)(:p11.1→q11.1:
:q12.3→q21.1:) orientation of fragments not clear |
midi | no
UPD 18 mar of mat origin |
see below | {27} |
|
born after normal pregnancy; weight: 3600g, length: 56cm (>90. centile); OFC 35cm (25.-50. centile); at 11y normal length and weight; but hypertelorism with inner and outer canthal distance (3.7cm, 9.8cm) >97th centile; bilateral epicantic folds, upward slanting palpebral fissures; short, upturned nose, long philtrum, short neck, widely spaced nipples, shirt 5th fingers, cubitus valgus, 3 hyperpigmented areas on abdomen. pubertal development at Tanner stage 3; IQ 76, hyperactive, suffers from dyslasia |
||||||||||
| 18-W-p11.21/ 1-1 |
male | 30y | PBL/ BM |
de novo | 47,XY,+r[13]/ 46,XY[42] |
r(18)(::p11.21→q10::)* | all
cep probes; pericentric YAC clones as detailed in {66} |
n.a. | normal pregnancy and delivery; learning disabilities; multiple symptoms summarized as Klippel-Trenaunay syndrome | {66} |
| 18-W-p11.21/ 2-1 |
male | 49y | PBL | n.a. | 47,XY,+i(18p)[15] | idic(18)(:p11.21→q10:) | cenM; subcenM; MCB |
n.a. | see below | {75} case 18-4 |
|
severe mental retardation, thin skin, hypogonadism, brachydactyly, long face, high palate, bilateral hearing loss; left hemiplagia (CVA 1992); developmental retardation - walking at 3 years; birth at term - 2800g |
||||||||||
| 18-W-q12.2/ 1-1 |
n.a. | postnatal | PBL | n.a. | 47 [100%] | idic(18)(q12.2) | array-CGH | n.a. | developmental delay | {109}case 16 |
W-Cases with centromere-near imbalances NOT caused by sSMC (IMB):
|
case no. |
gender |
age at diagnosis |
studied |
de novo/ |
GTG-banding result |
FISH |
UPD |
clinical symptoms |
reference |
|
18-W- IMB-p11.32/ 1-1 |
male |
11y |
PBL | n.a. |
46,XY,dup(18)(p11.21p11.32),inv(20)(p13q11) 10.2MB |
array-CGH | n.a. | see below | {114} case 71 |
|
mild mental retardation, growth retardation, mild dysmorphic features, behavioural problems, hernial inguinalis, ADHD |
|||||||||
|
18-W- IMB-q11.2/ 1-1 |
n.a. |
postnatal |
PBL | n.a. | 46,dup(18)(q11.2) | n.a | n.a. | see below | {96} |
|
knee dislocation and hyperpigmentation |
|||||||||
|
18-W- IMB-q11.2/ 1-2 |
n.a. |
postnatal |
PBL | n.a. | 46,dup(18)(q11.2) | n.a | n.a. | see below | {105} |
|
knee dislocation and hyperpigmentation |
|||||||||
Cases with unclear/insufficient characterization of the sSMC itself (C):
|
case no. |
gender |
age at diagnosis |
studied |
de novo/ |
GTG-banding result |
final FISH result of the sSMC |
FISH |
UPD |
clinical symptoms |
reference |
| 18- CW-1 |
male | 23y | PBL | n.a. | 47,XY,+mar | r(18) | SKY | n.a. | Klippel-Trenaunay-Weber syndrome | {14} case 6 |
|
18- CW-2 |
male or female | various | PBL | familial | 47,+mar | der(18)t(18;21 or 22) | n.a. | n.a. | mental retardation, and different dysmorphic features as described in detail by the authors | {10} |
|
18- CW-3 |
male | prenatal | AF | de novo | 47,XY,+r[28%]/ 46,XY[72%] |
r(18) | FISH with all available centromeric probes | n.a. | pregnancy terminated; autopsy showed 2 vessels in umbilical cord; abnormal left kidney. | {12} case 10 |
|
18- CW-4 |
female | postnatal | PBL | n.a. | 47,XX,+mar[mosaic status unclear] | dic(18) | Primed in situ hybridization (PRINS) | n.a. | dysmorphic features like brachycephaly, short upper jaw, missing ear-lobe, micrognathia | {16} |
|
18- CW-5 |
female | 1d | Fibroblasts | de novo | 47,XX,+mar[15%]/ 46,XX[85%] |
der(18) | FISH with all available centromeric probes | n.a. | see below | {22} case 33 |
|
Baby was delivered at term but died one day after birth; abnormal facial appearance, abnormal position of the limbs, ventricular septal defect, non-mmunological hydrops fetalis |
||||||||||
|
18- CW-6 |
n.a. | n.a. | n.a. | n.a. | 47,+mar[?%] | mar(18) | FISH with ? | n.a. | developmental abnormal | {73} 1 case |
|
18- CW-7 |
female | 8m | PBL | de novo | 47,XX,+mar[30%]/ 46,XX[70%] |
mar(18) | PRINS | n.a. | see below | {73} case 3 |
|
developmental delay, weight at 5th centile, lenght at 10. centile, OFC at 5th centile at 8m. mild hypotonia, flat nasal bridge, high arched palate, protruding tongue, capillary hemangiomas on the left upper eyelid, lower lip, right side of the back, right upper chest, right second finger, and left fifth finger; patent ductus arteriosus. |
||||||||||
|
18- CW-8 |
male | newborn | PBL. | de novo | 47,XY+del(18)(q11)[100%] mar looks like an i(18p!!) |
n.a. | no FISH | n.a. | developmental abnormal; | {92} |
|
18- CW-9 |
male | newborn | PBL. | de novo | 47,XY+del(18)(q11)[100%] | n.a. | no FISH | n.a. | developmental abnormal; | {93} |
|
18- CW-10 |
male | newborn | PBL. | de novo | 47,XY+del(18)(q11)[100%] | n.a. | no FISH | n.a. | developmental abnormal; | {93} |
| 18- CW-4 |
n.a. | prenatal | AF | de novo | 47,+mar[17%]/ 46[83%] |
mar(18) | wcp18; cep18 | n.a. | Abnormal triple test, sonographic malformations (facial dysmorphism), TOP; Fetopathology low set ears, retrognathism | {119} case 8 |
_______________________________________________________________________________________
Patient support group:
Chromosome 18 registry & research
society: http://www.chromosome18.org
According to {32} i(18p) commonly form through meiosis II non-disjunction immediately followed by meiotic or early post-meiotic mitotic miss-division at the centromere; the i(18p) are preferentially of maternal origin. Exceptions are familial forms like described in {35, 37, 39, 43}.
|
case no. |
reference |
| 18-Wi-1 | {3} case 3; {32} case 6 |
| 18-Wi-2 to 18-Wi-3 | {4} cases 22, 24; {5} cases 10-11 |
| 18-Wi-4 | {6}; {5} case 8; {58} case 9 |
| 18-Wi-5 to 18-Wi-13 | {7}; {8} case 11 |
| 18-Wi-14 | {11} case 1 |
| 18-Wi-14 to 18-Wi-15 | {13} case 12-13 |
| 18-Wi-16 | {17} |
| 18-Wi-18 | {18} case 2 |
| 18-Wi-19 | {19} |
| 18-Wi-20 to 18-Wi-21 | {20-21} cases 14-15 |
| 18-Wi-22 | {20} case 16 |
| 18-Wi-23 to 18-Wi-24 | {5} cases 9, 12; case 12 = {58} case 8 |
| 18-Wi-25 | {24} case 2 |
| 18-Wi-26 | {25} case 4 |
| 18-Wi-27 | {28} case B |
| 18-Wi-28 to 18-Wi-29 | {30} cases 1-2 |
| 18-Wi-30 | {31} case VII |
| 18-Wi-31 to 18-Wi-39 | {32} cases 1-5; 7-9 |
| 18-Wi-40 | {34} |
| 18-Wi-41 | {35} i(18p) maternal in origin (mother normal with 2/50 metaphases in blood with sSMC) |
| 18-Wi-42 | {36} mosaic: 47,XY,+i(18p)/46,XY |
| 18-Wi-43 | {37} - 47,XX,del(18)(p11.21),+i(18p) |
| 18-Wi-44 | {38} |
| 18-Wi-45 | {39} - 47,XX,del(18)(p11),+i(18p) |
| 18-Wi-46 | {40} |
| 18-Wi-47 | {41} |
| 18-Wi-48 | {42} case 2 |
| 18-Wi-49 | {43} |
| 18-Wi-50 | {44} |
| 18-Wi-51 to 18-Wi-52 | {45 cases 9-10, {78} |
| 18-Wi-53 | {46} |
| 18-Wi-54 to 18-Wi-55 | {47} |
| 18-Wi-56 | {48} |
| 18-Wi-57 | {49} |
| 18-Wi-58 | {50} |
| 18-Wi-59 | {51} |
| 18-Wi-60 to 18-Wi-61 | {52} |
| 18-Wi-62 | {53} |
| 18-Wi-63 | {54} = {58} case 4 |
| 18-Wi-64 | {55} |
| 18-Wi-65 | {56} |
| 18-Wi-66 to 18-Wi-77 | {19} 12 cases reviewed but not detailed here with original citation |
| 18-Wi-78 | {57} |
| 18-Wi-79 to 18-Wi-80 | {58} cases 1 and 3 = {59} cases 4 and 2 |
| 18-Wi-81 to 18-Wi-84 | {58} cases 2, 5, 6, 7 |
| 18-Wi-85 | {60} |
| 18-Wi-86 to 18-Wi-87 | {61} |
| 18-Wi-88 | {62} mosaic karyotype with loss of one X-chromosome in a certain percentage of the cells |
| 18-Wi-89 | {63} |
| 18-Wi-90 | {64} |
| 18-Wi-91 to 18-Wi-92 | {65}cases 12-13 |
| 18-Wi-93 | {67} |
| 18-Wi-94 | {69}case 4; inv dup 18p and inv dup 18q and normal 18 |
| 18-Wi-95 | {71} |
| 18-Wi-96 to 18-Wi-97 | {72} 2 cases |
| 18-Wi-98 to 18-Wi-99 | {74} cases 19 and 23, {90} cases 24 and 29 |
| 18-Wi-100 | {0} case provided by Dr. Küpferling, Cottbus, Germany |
| 18-Wi-101 | {76} 1 case of 15109 CVS cases |
| 18-Wi-102 | {0} case provided by Dr. Michael Petersen, Athens, Greece |
| 18-Wi-103 | {111} postnatal - case 26 |
| 18-Wi-104 | {0} case provided by Dr. Ivan Iourov, Moscow, Russian Federation |
| 18-Wi-105 | {79} |
| 18-Wi-106 | {80} 1case |
| 18-Wi-107 to 18-Wi-117 | {81} 11 cases |
| 18-Wi-118 | {82} case 2 |
| 18-Wi-119 to 18-Wi-123 | {83} cases 12-16 |
| 18-Wi-124 to 18-Wi-128 | {84} cases 17-21 |
| 18-Wi-129 | {0} case provided by Jasen Andersen, Brisbane, Australia |
| 18-Wi-130 | {0} case provided by Dr. Deutinger, Vienna, Austria |
| 18-Wi-131 | {0} case provided by Dr. Decker, Mainz, Germany |
| 18-Wi-132 | {0} case provided by Jasen Andersen, Brisbane, Australia |
| 18-Wi-133 | {85} |
| 18-Wi-134 to 18-Wi-137 | {86} cases 67-68; 72-73 |
| 18-Wi-138 | {87} |
| 18-Wi-139 | {0} case provided by Dr. Bartels, Göttingen, Germany |
| 18-Wi-140 | {89} case 3 |
| 18-Wi-141 | {0} case provided by Dr. Tittelbach, Nürnberg, Germany |
| 18-Wi-142 | {111} postnatal - case 28 |
| 18-Wi-143 | {0} case provided by Dr. Yardin, Limongues, France |
| 18-Wi-144 | {111} postnatal - case 27 |
| 18-Wi-145 to 18-Wi-146 | {0} cases provided by Dr. Dilek Aktas, Ankara, Turkey |
| 18-Wi-147 | {111} postnatal - case 29 |
| 18-Wi-148 to 18-Wi-149 | {113} postnatal - 2 cases |
| 18-Wi-150 | {0} case provided by Dr. Michael Petersen, Athens, Greece |
| 18-Wi-151 to 18-Wi-153 | {116} postnatal - 3 cases; mosaicism in buccal mucosa with normal cells |
| 18-Wi-154 | {117} prenatal - mosaicism |
| 18-Wi-155 | {119} case 3, prenatal |
| 18-Wi-156 | {0} postnatal, case provided by Dr. F. Sheth (Ahmedabad, India) |
| 18-Wi-157 | {120} postnatal - mos 47,XY,+i(18)/45,X |
| 18-Wi-158 | {121} prenatal i(18p) present in 35% of the cells; postnatal no i(18p) detectable - normal child |
| 18-Wi-159 to 18-Wi-160 | {122} postnatal - cases 5 and 6 |
| 18-Wi-161 to 18-Wi-163 | {123} prenatal - 3 cases |
| 18-Wi-164 | {0} prenatal case provided by Dr. Junge, Dresden [47,XY,+mar[23]/46,XY[35]] |
_______________________________________________________________________________________
Cases with unclear clinical correlation of the sSMC itself
(U):
|
case no. |
gender |
age at diagnosis |
studied |
de novo/ |
GTG-banding result |
final FISH result of the sSMC |
FISH |
UPD |
clinical symptoms |
reference |
|
18- U-1 |
male | prenatal | AF | de novo | 47,XY,+mar[11]/ 46,XY[11] |
i(10)(:p11.1→q11.1::p.
or. q11.1→q11.1 or
p11.1)[15]/ i(10)(pter→q11.21: :q11.21→pter) x2 (tetraploid mitosis)[2]/ min(18)(p11.1→q11.1)[3] |
cenM; subcenM |
n.a. | see below | {1} case 35 |
|
singularly umbilical cord artery, complex heart defect and microcephalus detected in ultrasound; fetus spontaneously aborted |
||||||||||
|
18- U-2 |
male | postnatal | PBL | de novo | 47,XY,+mar[100%?] | min(18)(:p11.2 or p11.1→q11.2) | midi | n.a. | n.a. | {15} case 6 |
|
18- U-3 |
male | 20m | PBL | de novo | 48,XY,+r1,+r2[20%]/ 47,XY,+r1[40%]/ 47,XY,+r2[40%] |
r1
= r(13 or 21) r2 = r(18) |
FISH with all available centromeric probes | n.a. | see below | {20; 21} case 20 |
|
multiple congenital abnormalities; at birth he had a truncus arteriousus type I; atrial and ventricular septal defects, A-V canal, sepsis, pyloric stenosis, seizures resulting from front-parieto-temporal intracranial hemorrhage; at 11m he sat, crawled, walked, smiled, babbled and developmentally normal; at 20m weight at 70-90th percentile, OFC at 2. percentile, internal strabismus, malformation of T-12 vertebrae, levo scoliosis, microphallus; |
||||||||||
|
18- U-4 |
female | 7y | PBL | de novo |
47,XX,add(18)(p11.2),+r[5]/ |
invdup(18)(qter→p11.32::q21.3→qter) +r(18)(p11.32q21.3) | FISH with different YAC probes as specified in {27} | n.a. | see below | {27} case 6 |
|
Born after uncomplicated pregnancy. Apgar score 8 at 1 min. Transient feeding difficulties in neonatal period. No growth delay during early months of life. Developmental milestones moderately retarded. At 7y short stature, mental retardation, and multiple dysmorphic features. |
||||||||||
|
18- U-5 |
female | 10y | PBL | de novo | 47,XX,add(18)(p11.32),+r[40]/ 46,XX,add(18)(p11.32)[60] |
invdup(18)(qter→p11.32::p11.32
→p11.1::q21.3→qter) +r(18)(p11.1q21.3) |
FISH with different YAC probes as specified in {27} | n.a. | see below | {27} case 7 |
|
Psychomotor retardation at since1y; Apgar score 5 at 1 min. During first 2 months lack of sucking reflex and frequent vomiting; needed gastric tube feeding; convergent strabismus. Clinical examination revealed multiple minor anomalies |
||||||||||
|
18- U-6 |
female | 11y | PBL | de novo | 47,XX,r(18)(p11.3q23),
+r[112]/ 46,XX,r(18)(p11.3q23)[88] |
r(18)(p11.22q12.2) | midi | n.a. | see below | {33} |
|
unremarkable pregnancy, birth weight 3.1kg (25.-50. centile); facial dysmorphism and right club foot noted at birth; initially hyperactive, mild developmental delay, at 11y height at 10. centile, weight at 25. centile, OFC slightly below 50. centile; broad forehead, thick flaring eyebrows with mild synophrys, hypertelorism, upslanting palpebral fissures, bulbous tip of the nose, short philtrum, widely spaced nipples, bilateral clinodactyly of little fingers. |
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|
18- U-7 |
female | prenatal | n.a. | n.a. | 47,XY,+mar[mosaic] | mar(18) | SKY | n.a. | n.a.; termination of pregnancy | {68} |
|
18- U-8 |
female | prenatal | AF | de novo | 47,XY,-18,+mar1,+mar2[100%] | fis(18)(:p11.21→p10:) fis(18)(:q10→q21.31:) both ring chromosomes |
diff. FISH probes | n.a. | n.a. | {69}case 2 |
| 18- U-9 |
female | 6y | PBL | n.a. |
48,XX,+mar1,+mar2[101]/ 47,XX,+mar1[38]/ 47,XX,+mar2[29]/ 46,XX[5] |
min(4)(:p11.1→q12:); r(18)::(p11.21→q11.1: :p11.21→q11.1::)[2]/ inv_dup(18)(:p11.1→q11.1: :q11.1→p11.1:)[4]/ min(18)(:p11.21→q11.1: :q11.1→p11.1:)[4] |
M-FISH, subcenM; midi | no UPD 4 or 18 | dysmorphic features, multiple congenital malformations | {94}
case MK {95} case 15 |
|
18- U-10 |
male | prenatal | AF | maternal |
47,XY,+mar[100%] |
der(18)t(8;18)(8p23.2~23.1;18q11.1) | all wcp probes, subcenM, MCB, flow sorting, subtel 8p | n.a. | see below | {95}
case 10 {108} case 13 |
|
Third child of not consanguineous couple; the pregnancy was complicated by hyperemesis gravidarum treated with metoclopramid and there was a mild exposure to tobacco (3 cigarettes a day) and to alcohol (1 unit per month). No abnormalities noted prenatally; at birth weight and OFC at 10th centile and length at 50-90 centile but no apparent congenital abnormalities were found. At 1y failure to thrive and markedly psychomotor development delay (Griffith General Intelligence Quotient of 63). Neurological examination revealed slight muscular hypotonia but otherwise no abnormalities. MRI of the brain was normal. Laboratory analyses were unsuggestive for any metabolic disorder. The mother was treated for attention-deficit/hyperactivity problems during her adolescence and her IQ seems to be borderline. |
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|
18- U-11 to U-12 |
female and male | prenatal | AF | de novo | 47,XX,+mar[7]/46,XX[8] and 47,XY,+mar[7]/46,XY[13] |
mar(18) | diff. FISH probes | n.a. | Advanced maternal age or parental anxiety; TOP in both cases | {86}cases 69-70 |
|
18- U-13 |
male | prenatal | AF | de novo | 47,XY,+mar1[7]/ 47,XY,+mar2[4]/ 46,XY[4] |
mar(18), mar(18) | diff. FISH probes | n.a. | Advanced maternal age; TOP in both cases | {86}case 110 |
|
18- U-14 to 15 |
n.a. | prenatal | AF | n.a. | 47,+mar[?%] | mar(18) | SKY | n.a. | no info available | {97}2 new cases |
|
18- U-16 |
female | prenatal | AF | n.a. | 47,XX,+mar[100%] |
r(18)(::p11.21→q12.1::) array: 11.19-23.60 |
cenM, subcenM, array-CGH |
n.a. | advanced maternal age; hyperechogenic bowel, borderline ventriulomegaly; TOP | {0}case provided by Gordana Joksić, Belgrad, Serbia |
|
18- U-17 to 18-U-20 |
n.a. | n.a. | n.a. | n.a. | 47,+mar[?%] | mar(18) | wcp probes | n.a. | no info available | {112} 4 cases |
|
18- U-21 |
male | prenatal | AF | n.a. |
47,XY,+mar[67%]/ 46,XY[33%] |
r(18)(::p11.1→q11.2::)[7]/min(18)(:p11.1→q11.2:)[8] | cep probes; subcenM | n.a. | advanced maternal age;, no info available | {0}case provided by Dr. Junge, Dresden, Germany |
|
18- U-22 |
female | prenatal | AF | n.a. | 47,XX,+mar[30%]/46,XX[70%] | min(18)(:p11.1->q11.1~11.2:) | cep probes; subcenM | n.a. | advanced maternal age;couple opted for TOP, fetus normal by visual inspection; no autopsy performed. | {0}case provided by Dr. Nehama Israel |
|
18- U-23 |
male | prenatal | AF | de novo | 47,XY,+mar[15] | min(18)(:p11.1→q11.1:) |
cenM; subcenM |
no UPD 18: informative markers: D18S858; D18S046 |
Amniocentesis due to advanced maternal age; hygroma colli detected in ultrasound, pregnancy terminated |
{1} case 26 {2} case 1 |
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Cases with an sSMC with neo-centromere (N):
|
case no. |
gender |
age at diagnosis |
studied |
de novo/ |
GTG-banding result |
final FISH result of the sSMC |
FISH |
UPD |
clinical symptoms |
reference |
| 18-N-mar/1 | male |
1y |
PBL | de novo | 47,XY,+mar[64]/ 46,XY[36] |
der(18). ish D18Z1-; wcp18+ | different FISH probes (D15Z1; wcp15) | n.a. | see below | {3} case 4; {99} |
|
born with cesarean section; weight 2600g; length 51cm; mild mental retardation; cardiovascular abnormalities VSD; mild valvular pulmonic stenosis, imperforate anus, dysplastic kidney; dysmorphic features, microtia; conductive hearing loss; brain with generalized dilation of ventricles; at age of 16 height of 180cm |
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N-Cases with similar imbalances NOT caused by sSMC (N-IMB):
|
case no. |
gender |
age at diagnosis |
studied |
de novo/ |
GTG-banding result |
FISH |
UPD |
clinical symptoms |
reference |
|
18-N-IMB-pter/ 1-1 to mult |
16 cases with trisomy 18p
Review >20 patients with dup 18p and (almost) no symptoms {115} |
{100} 3 cases {101} {102} 2 cases {103} 9 cases {107} 1 case {115} |
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|
18-N-IMB-qter/ 1-1 to mult |
see {118} | {118} | |||||||
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