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- CHROMOSOME #18 -
UNCLEAR
are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!
| UPD (uniparental disomy) cases: | UPD(18)mat | UPD(18)pat | UPD(18)mat or pat |
| 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 |
| 18- U- 1 |
see mult 2-7 | {1} case 35 | ||||||
| 18- U- 2 |
male/ postnatal |
PBL | de novo | 47,XY,+mar[100%?] | min(18)(:p11.2 or p11.1→q11.2) | midi | n.a. | {15} case 6 |
18- U- 3 |
see mult 2-12 | |||||||
| 18- U- 4 |
female/ 7y |
PBL | de novo | 47,XX,add(18)(p11.2),+r[5]/ 46,XX,add(18)(p11.2)[11] |
inv
dup(18)(qter→p11.32:: q21.3→qter),+r(18)(p11.32q21.3) |
FISH with different YAC probes as specified in {27} | 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 MR. At 7y short stature, MR, and multiple DYS | ||||||||
| 18- U- 5 |
female/ 10y |
PBL | de novo | 47,XX,add(18)(p11.32),+r[40]/ 46,XX,add(18)(p11.32)[60] |
inv
dup(18)(qter→p11.32: :p11.32→p11.1::q21.3→qter),+r(18)(p11.32q21.3) |
FISH with different YAC probes as specified in {27} | 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 | 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 | ||||||||
| 18- U- 7 |
male/ prenatal |
n.a. | n.a. | 47,XY,+mar[mosaic] | mar(18) | SKY |
n.a., TOP | {68} |
| 18- U- 8 |
male/ 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. | {69} case 2 |
| 18- U- 9 |
see mult 2-18 | |||||||
| 18- U- 10 |
see 18-Uc-3 | |||||||
| 18- U- 11 to 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 | AMA 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) | diff. FISH probes | AMA; TOP in both cases | {86} case 110 |
| 18- U- 14 to 15 |
n.a./ prenatal |
AF | n.a. | 47,+mar[?%] | mar(18) | SKY | 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, aCGH |
AMA; hyperechogenic bowel, borderline ventriulomegaly; TOP | {0} provided from Serbia |
| 18- U- 17 to 20 |
n.a./ n.a. |
n.a. | n.a. | 47,+mar[?%] | mar(18) | wcp probes | no info available | {112} 4 cases |
| 18- U- 21 |
ale/ 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 | AMA;, no info available | {0} provided from 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 | AMA;couple opted for TOP, fetus normal by visual inspection; no autopsy performed | {0} provided from Israel |
| 18- U- 23 |
male/ prenatal |
AF | de novo | 47,XY,+mar[15] | min(18)(:p11.1→q11.1:) | cenM; subcenM; UPD-test |
AMA; hygroma colli detected in ultrasound, TOP | {1} case 26 {2} case 1 |
| 18- U- 24 |
see 18-Uc-4 | |||||||
| 18- U- 25 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[?%]/ 46,XX[?%] |
min(18)(:p11.1→q11.1:) | ceps; subcenM |
no info available | {0} provided from Turkey |
| 18- U- 26 |
female/ prenatal |
chord blood | n.a. | 47,XX,+mar[95%]/ 46,XX[5?%] |
min(18)(:p11.1→q11.1:) | ceps; subcenM |
no info available | {0} provided from Germany |
| 18- U- 27 |
female/ 1y |
PBL | de novo | 47,XX,+mar[100%] | min(18)(:p11.1→q11.1:)* | different FISH-probes; aCGH | see below | {46} case 10 |
| global DD, occipital encephalocele, severe cerebellar hypoplasia, mild pontine and brainstem hypoplasia, a bicuspid aortic valve, atent ductus arteriosus, a duplicated left kidney | ||||||||
| 18- U- 28 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[8]/ 46,XX[7] |
mar(18) | SKY | no info available | {151} case F077572 |
| 18- U- 29 |
n.a./ prenatal |
AF/ PBL |
de novo | 47,XX,+18[5%]/ 47,XY,+mar[50%]/ 46,XX[45%] |
mar(18) | QF-PCR | no info available apart from the fact that child is born | {154} |
| 18- U- 30 |
male/ 20y |
PBL | n.a. | 47,XY,+mar[65%]/ 46,XY[25%] |
47,XY,+r(18)(::p11.21→q11.1::)[10]/ 47,XY,+r(18)(::q11.1→p11.21::p11.21→q11.1::)[5]/ 47,XY,+der(18)(:p11.21→q11.1:)[2]/ 47,XY,+der(18)(:q11.1→p11.21::p11.21→q11.1:)[2]/ 46,XY[7] |
cenM, subcenM | DD in childhood | {0} provided from Germany |
| 18- U- 31 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[20] | min(18)(:p11.21→q11.2:) array: 14.74-19.47 |
aCGH | AMA, TOP |
{160} case 23 |
| 18- U- 32 |
female/ prenatal |
AF | de novo | 47,XX,+mar[46%]/ 46,XX[54%] |
min(18)(:p11.1→q11.2:) array: 17.23-17.65 |
aCGH | AMA, n.a. | {169} |
| 18- U- 33 |
male/ prenatal |
chorion | n.a. | 47,XY,+mar[17]/ 46,XX[3] |
del(18)(q21.2:) array: ~26Mb |
aCGH | AMA, normal baby born; no sSMC detected | {180} 1 case |
| 18- U- 34 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[30%]/ 46,XY[70%] |
min(18)(:p11.1→q11.1:) | cep; subcenM | AMA; n.a. | {0} provided from Germany |
| 18- U- 35 |
see 18-Uc-5 | |||||||
| 18- U- 36 |
female/ prenatal |
chorion | n.a. | 47,XX,+mar[100%] | del(18)(q12q22) | cep, pcp, subtel, MCB | Singulary umbilical cord artery, enhanced nuchal transluciency, TOP | {0} provided from Germany |
| 18- U- 37 |
female/ prenatal |
AF |
n.a. | 47,XX,+mar[21] 46,XX[29] |
min(18)(:p11.1→q11.2:) | subcenM |
NIPT showed
trisomy 18 |
{0} provided from Germany |
| 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 |
| 18- Uc- 1 |
male or female/ various |
PBL | familial | 47,+mar | der(18)t(18;21 or 22) | n.a. | MR,and different DYS as described in detail by the authors | {10; 166} |
| 18- Uc- 2 |
see 18-Wi-264 | |||||||
| 18- Uc- 3 |
male/ prenatal |
AF, PBL (EKF- cellbank) |
maternal | 47,XY,+mar[100%] | der(18)t(8;18)(p23.2~23.1;q11.1) array: 8pter to 6,359,643 MB and 18pter to 17,112,922 MB |
all wcp probes, subcenM, MCB, flow sorting, subtel 8p | see below | {95} case
10 {108} case 13 {158} case Sc-2 {166} |
| 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.[nbsp] The mother was treated for attention-deficit/hyperactivity problems during her adolescence and her IQ seems to be borderline. | ||||||||
| 18- Uc- 4 |
female/ newborn |
PBL | de novo | 47,XX,+mar[22]/ 46,XX[8] |
der(18)t(2;18)(p23.1;q11.1) | aCGH | IUGR; OFC >90th centile due to scalp edema, OFC became afterwards 10.-25. centile; DYS, congenital heart defect; at 7 m: growth retardation; weight ~3rd centile, DD, MR | {130; 166} |
| 18- Uc- 5 |
male/ prenatal |
AF | paternal t(4;18) (p15.2q11.2) | 47,XY,+der(18)t(4;18) (p15.2q11.2) | n.a. | FISH aCGH |
IUGR; cardiac abnormalities | {187} |
| 18- Uc- 6 |
female/ 36y |
PBL | n.a. |
47,XY,t(17;18)(q11.1;q11.2), +mar | mar(18) karyotype balanced may be sSMC after meioses |
SKY | normal female; repeated abortions | {131} {171} case 18-3 |
| 18- Uc- 7 |
male/ postnatal |
PBL | maternal t(12;18) | 47,XY,+der(18)t(12;18) (p13;q12) | n.a. | FISH wcps |
DYS, DD | {200} |
| 18- Uc- 8 |
n.a./ prenatal |
placenta |
paternal t(4;18) | 47,XN,+mar | +der(18)t(4;18)(p15.2;q11.2) | NIPT | n.a. | {220} case 1 |
| 18- Uc- 9 |
female/ 4y |
PBL |
de novo? | 47,XY,+r[24]/46,XY[6] | r(18)t(8;18)(::18p11.32→18q12.1: :8q24.13→8q24.23::) arr[GRCh37] 8q24.13q24.23(124,278,508_138,456,262)x3, 18p11.32q12.1(464,868_29,779,547)x3 |
FISH, aCGH | DD, microcephaly, cerebalar dysplasia | {0} provided from Germany |
| 18- Uc- 10 |
female/ penatal |
NIPT/ AF |
mat t(9;18) | 48,XX,+mar1,+mar2[100%] | mar1: der(18)t(9;18)(q34;q11.2) mar2: del(18)(q11.2) break [hg19] 9q: 140,118286 Mb |
FISH, NIPT, aCGH | DYS, TOP |
{233} |
| 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 |
| 18- Ud- 1 |
female/ 13y |
PBL | de novo | 47,XX,+mar[70%]/ 46,XX[30%] |
see below | midi; UPD-test | see below | {27} {0} |
| 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) [gt]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 min(18)(:p11.1→q11.1: :q12.3→q21.1:) orientation of fragments not clear sSMC derived from a maternal normal chromosome 18 seq[GRCh37] +min(18)(:q11.1→q11.1::q12.3→q21.2:)chr18:g.[cen_18520343_18594804::41472065_49040431: :alphoid DNA L1.84]add |
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| 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 |
| 18- Uu- 1 |
female/ prenatal |
AF | de novo | 47,XX,+mar[16]/ 47,XX,+18[2] |
min(18)(:p11.1→q11.1:)* UPD(18)mat |
NIPT, cep 18 | AMA, no sonographic signs; TOP; no external abnormalities | {197} |