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- CHROMOSOME #14 -
ABNORMAL
In general 70% of sSMC
carriers are clinically
normal. The figures listed above
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(14)mat | UPD(14)pat | UPD(14)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 |
| 14- W- q10/ 1-1 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[95%]/ 46,XY[5%] |
inv dup(14)(q10) | midi, subcenM | see below |
{92} case 14-W-q10/1-1 |
| upward slant of palpebral fissures, tall stature, asthenic type, arachnodactyly, hyperextension of ulnar, radius and interphalangeal joints, asymmetric thorax, pectus excavatum, scoliosis, additional chord of the left ventricle, prolapse of the mitral valve, tachycardia, nephroptosis, spontaneously aborted. | ||||||||
| 14- W- q10/ 1-2 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[%?] | inv dup(14)(q10) | midi, subcenM | see below | {92} case 14-W-q10/1-2 |
| Up-slanting palpebral fissures, prominent premaxillary, malocclusion, micrognathia/ retrognathia, high vaulted and narrow palate, hyperthelia, additional chord of the left ventricle, excessive pilosis, pollex hypermobility. Pregnancy was aborted. | ||||||||
| 14- W- q11.1/ 1-1 |
female/ adult |
bone marrow | de novo acquired | case 1:
48,XX,+4,+18,-19,-21,-22,+3mar,
t(3;10)(q11;q12),t(12;14)(q24;q11) case 2: 46,X,-X,-10,-12,+14,-17,+3mar,t(14;14)(q11;q32) |
n.a. | hint on repeated involvement of the breakpoint 14q11 in cases with adult T-cell leukemia; involved is T-cell receptor gene | {30} cases 2 and 4 | |
| 14- W- q11.1/ 2-1 |
see 14-U-14 | |||||||
| 14- W- q11.1/ 3-1 |
see 14-U-15 | |||||||
| 14- W- q11.1 ~11.2/ 1-1 |
see 14-U-16 | |||||||
|
***
14-W- q11.2/ 1-1 °°°
|
n.a./ postnatal |
PBL | n.a. | 47,+mar[100%] | min(14)(pter→q11.2:)* distal clone in 14q RP11-14J7 (20.17MB) |
aCGH | DYS | {38} case 7 |
| 14- W- q11.2/ 2-1 °°°
|
male/ postnatal |
PBL | n.a. | 47,XY,+mar[100%] | r(14)(::p11.2→q11.2::) | CGH | hypogonadotopic hypogonadism, moderate mental DD. precocious puberty, small hands, scoliosis | {40} case 12 |
| 14- W- q11.2/ 2-2 |
male/ 16y |
PBL | n.a. | 47,XY,+mar[14]/ 46,XY[16] |
r(14)(::p11.?2→q11.2::) | cenM; subcenM | normal apart from dwarphism | {92} case 14-W-q11.2/2-2 |
| 14- W- q12/ 1-1 °°°
|
male/ ~1y |
PBL | de novo | 47,XY,+mar[100%] | min(14)(pter→q12:) 13.43 MB of euchromatin |
SNP aCGH | see below | {74} |
| oligohydramnios at 24 weeks pregnancy,; at birth weight 2500 g (3rd centile), length 47 cm (10th centile), head circumference 34 cm (10th centile); at 7 months pneumonia and general muscular hypotonia, transverse palmar creases, hypogammaglobulinemia, facial dysmorphism; at 27 months, height 80 cm (1st centile), weight 12 kg (3rd centile), head circumference 48 cm (5th centile). Severe developmental delay and brain malformations, strabism | ||||||||
| 14- W- q13.2/ 1-1 |
see 14-U-32 | |||||||
| 14- W- q13.3/ 1-1 |
see 14-Ud-1 | |||||||
| 14- W- q13/ 1-1 °°°
|
male/ prenatal |
AF | de novo | 47,XY,+mar[100%] | inv dup(14)(q13) | different FISH-probes: wcp14, YACs as specified in {17} | see below | {17} |
| Amniocentesis due to ultrasound abnormalities in week 18 and 23 (among others unilateral talipes); pregnancy terminated; autopsy revealed correct length and weight, but prominent nasal bridge, protuberant forehead, ears low set and posteriorly angulated, camptodactyly bilateral clinodactyly, shortening of talipes of left leg, brain with ventriculomegaly, possible delayed neuronal migration | ||||||||
| 14- W- q13/ 1-2 °°°
|
male/ 1m |
PBL | de novo | 47,XY,+mar[16]/ 46,XY[47] at 2 years same rate of sSMC, at 7y 42% in PBL in buccal mucosa stable at ~20% |
inv dup(14)(q13.1) size 14.5 MB |
different FISH-probes: wcp14, BACs as specified in {28} | see below | {28; 63} |
| The third boy of a healthy Turkish consanguineous couple was born at term after an uneventful pregnancy. Weight: 2,490 g (3rd centile), length 48 cm (10th centile), head circumference 34 cm (10th centile). Dysmorphism: craniofacial features like head asymmetry, high-arched eyebrows, epicanthal folds, broad and high nasal bridge, bulbous nasal tip, flared nostrils, protruding philtrum, thin lips, posteriorly rotated low-set ears, retrognathia, sparse hair, omphalocoele, abnormally widely placed nipples, bilateral coloboma of the iris. Left hand with a single palmar crease tracheomalacia→ stridor at age of 6 weeks. At age of 10 months marked psychomotor delay (DQ 30-50). And body measurements below the 3rd centile. | ||||||||
| 14- W- q13/ 1-3 °°°
|
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | inv dup(14)(q13) | wcp14 | see below | {34} |
| AMA, a previous missed abortion and growth retardation with talipes varus at both feet in week 20. pregnancy terminated in week 22. Postmortem examination showed: prominent forehead, protruding philtrum, overlapping columella nasi, micrognathia and retrognathia, low-set and posteriorly rotated ears, bilateral talipes varus, camptodactyly, clinodactyly, large heavy maceration, high dilatation of first and second ventricles, bilobated lungs, visceral immaturity, generalized congestion after opening of cavities, below normal weight of 300g. placenta with micro calcifications, umbilical cord with only two vessels. | ||||||||
| 14- W- q13/ 1-4 °°°
|
n.a./ few months |
PBL | de novo | 47,+mar[?%] | inv dup(14)(q13) | n.a. | see below | {29; summary in 36} |
| died at age of 11 months, mental retardation, pre- and postnatal growth retardation; microcephaly, low set malformed ears, cleft palate, flat facies, down slanting palpebral fissures, camptodactyly, hearing problem, blind, cardiovascular anomalies | ||||||||
| 14- W- q13/ 2-1 |
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | min(14)(:q13→q24.3:) | wcp 14, D14/22Z1 | see below | {92} case 14-W-q13/2-1 |
| sSMC detected prenatally due to ultrasound abnormalities and infection in amnion water - due to broken amniowall; TOP at 23rd week of gestation; weight 419g, discoid placenta, ventricular septal defect, acute chorioamnionitis; head circumference 18cm, chest circumference 15.2 cm, abdominal circumference 12.8cm, length ~26cm. slightly low set right ear, hypoplastic thymus; data included here according to wish and permission of parents. | ||||||||
| 14- W- q13/ 3-1 °°°
|
female/ newborn |
PBL | n.a. | 47,XX,+mar[100%] | min(14)(pter→q13:) | cenM, subcenM | as newborn right leg turned inwards, facial DYS, hypotonia | {92} case 14-W-q13/3-1 |
| 14- W- q13.3/ 1-1 °°°
|
male/ 17y |
PBL | de novo | 47,XY,inv(9)(p12q13),+mar[40%]/ 46,XY,inv(9)(p12q13)[60%] |
r(14)(::p12→q13.3::) | cenM, subcenM; UPD-test | MR and facial DYS | {92} case 14-W-q13.3/1-1 |
| 14- W- q21.2/ 1-1 °°°
|
n.a./ newborn |
PBL | de novo | 48,+mar1,+mar2[35%]/ 47,+mar1[65%] |
min(14)(pter→q21.1:)* min(14)(pter→q11.2)* |
centromeric probes wcp 14 | see below | {36} |
| normal pregnancy; born by cesarean section at 39+2 weeks; APGAR 3, 7, 8. birth weight 2165g head circumference 32,2 cm, small low-set ears cleft palate, apparently small eyes with coloboma bilaterally and short palpebral fissures; right pelvic kidney, slightly distended ventricles; feeding problems in first months due to aspiration problems; at 7m developmental delay of 3m; hypotonia, bilateral hearing loss, severe multifocal epilepsy; at 1 m patient died as consequence of multiple cyanotic incidents due to convulsion and aspiration. no autopsy | ||||||||
| 14- W- q21.2/ 1-2 °°°
|
male/ 5y |
PBL | n.a. | 47,XY,+mar[100%] | min(14)(pter→q21.1:) |
cep, wcp, MCB14 | low birth weight, DD, growth retarded, microcephaly, facial DYS, strabismus, delay of tooth eruption, slender fingers, mild MR, micropenis and undescended testes | {92} case
14-W-q21.2/1-2; {93} |
| 14- W- q21.3/ 1-1 °°°
|
male/ 1y |
PBL | n.a. | 47,XY,+mar[100%] | min(14)(pter→q21.2:) | cep, wc,p MCB14 | low birth weight, growth retarded, microcephaly, facial DYS, cleft palate, fist (hand), overlapping toes, micropenis and pulmonary congestion | {92} case
14-W-q21.3/1-1; {93} |
| 14- W- q22 1-1 °°°
|
n.a./ prenatal |
chord blood | de novo | 47,+mar[100%] | min(14)(pter→q22:)* | centromeric probes wcp 14 | abnormal ultrasound, and AMA; in US IUGR, polyhydramnion, corpus callosum agenesis, TOP - no further data available | {32} case 12 |
| 14- W- q22 1-2 °°°
|
female/ 9m |
PBL | de novo | 47,XX,+mar[100%] | min(14)(pter→q22:)* | SKY BACs |
global DD, seizures, microcephaly, flat nasal bridge, epicanthal fold, CT --> frontal cerebral atrophy, hypsarrhthmia; died at 4.5 years | {74} |
| 14- W- q22 1-3 |
female/ 11y |
PBL | de novo | 47,XX,+mar[100%] | min(14)(pter→q22:)* | n.a. | growth
retardation, DD, MR, hypotonia, DYS,
microganthia |
{100} |
| 14- W- q24 1-1 |
female/ newborn |
PBL | de novo | 47,XX,+mar[100%] | min(14)(pter→q24:)* | n.a. | hypotonia,
microcephaly, DYS, VSD, high arched palate |
{90} |
| 14- W- q24 1-2 |
male/ newborn |
PBL | de novo | 47,XY,+mar[100%] | min(14)(pter→q24:)* | n.a. | growth
retardation, hypotonia, DYS, microganthia, high arched palate |
{101} |
| case
no. |
gender/ age at diagnosis |
studied material |
de
novo/ Inherited |
GTG-banding and final FISH result | test methods |
clinical
symptoms |
Reference |
| 14- W- IMB- q13/ 1-1 to 1-4 °°°
|
female and
male/ postnatal |
PBL | maternal
(balanced translocations) |
der(14)t(14;div. chrs.)(q13;div. breakpoints) | n.a. | features in common: microcephaly, MR, hypotelorism, strabismus, blepharophimosis, downturned corners of the mouth, small mandibles, low-set ears, short neck, sacral dimple | {51-54} reviewed in {50} |
| 14- W- IMB- q13.1/ 1-1 |
male/ postnatal |
PBL | de novo | 46,XY,dic(14)inv trp(14)(pter→q13.1:q13.1→q10:q10→qter) dn.arr[hg18] 14q11.2q13.1(19,283,777-34,082,974)×4 | FISH aCGH |
features like UPD(14)pat | {83} |
| 14- W- IMB- q22/ 1-1 |
male/ 33y |
PBL | n.a. | 46,XY,dup(a11.2q22.1~q22.3)/ 46,XY |
?FISH aCGH |
severe MR, DYS, no speach | {88} |
| 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 |
| 14- CW- 1 |
female/ 7y |
PBL cell line at ECACC DD0922 |
de novo | 47,XX,+mar[13]/ 46,XX[87] acc to {33} in cell line karyotype 47,XX,+2[25%]/46,XX[75%] |
mar(14) | all available centromeric probes; UPD-test | see below | {5} case
13 {14} case 13 {33} case 19 |
| mildly dysmorphic: frontal bossing, wide jaw, broad nasal bridge, slight down slating palpebral fissures, low anterior hairline, frontal cowlick, thick eyebrows, small ears, narrow palate; HC on 97th centile. Learning difficulties; analyzed due to suspicion of Noonan syndrome | ||||||||
| 14- CW- 2 |
see 14-U-13 | {35} case 7 |
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| case no. |
final
result of the sSMC
|
Reference |
| 14- Cww- 1 to 3 |
mentally retarded; min x1, inv dup x2 | {14} cases 14;17-18 |
| 14- Cww- 4 |
abnormal phenotype; 1 min | {48} 1 case |