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- CHROMOSOME #13 -
NEOCENTRIC
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(13)mat | UPD(13)pat | UPD(13)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 |
| 13- N- 1 |
n.a./ prenatal |
AF | de novo | 47,+mar[100%] | inv dup(13)(qter) | wcp | nuchal translucency and measurements above 90th centile. TOP, no further information available | {31} |
| 13- N- q12.3/ 1-1 |
see McCl-13-N-q12.3/1-1 | |||||||
| 13- N- qt21/ 1-1 |
female/ prenatal |
AF | de novo | 47,XX,+mar[3]/ 46,XX[36] |
inv dup(13)(qter→q21: :q21→qter) sSMC derived from maternal chromosome 13 |
wcp 13, QF-PCR | TOP; round facies, hypertelorism, down-slanting palpebral fissures and a bifid nasal bridge | {49; 52} |
| 13- N- qt21/ 1-2 |
see PsMcCl-13-N-q12/1-1 | |||||||
| 13- N- qt22/ 1-1 |
female/ prenatal |
AF | de novo | 47,XX,+mar[17]/ 46,XX[33] |
inv dup(13)(qter→q22: :q22→qter) | M-FISH; MCB 13 | n.a. | {0} provided by Dr. Kecman, New Belgrade, Serbia |
| 13- N- q21.31/ 1-1 |
see McCl-13-N-q21.31/1-1 | |||||||
| 13- N- qt21.33/ 1-1 |
male/ prenatal/ newborn |
PBL/ AF skin |
n.a. | 47,XY,+mar[2%]/ 46,XY[98%] in AF: 13/64 cells +mar in skin: ~50% |
min or mar(13)(:q21→qter) | SNP aCGH | AMA, postnatal: diffuse hypomelanotic streaks on skin, otherwise normal at 3.5 y | {55} case 1 |
| 13- N- qt24.1/ 1-1 |
female/ 4y |
PBL | n.a. | 47,XX,+mar[18%]/ 46,XX[82%] |
inv dup(13)(qter→q24.1: :q24.1→qter) | M-FISH; MCB |
born at 28th wog with ashpyxia; at 4 y: DD, clinodactyly, small OFC | {0} provided by Dr. Ruml, Belgrade, Serbia |
| 13- N- qt31/ 1-1 |
female/ 4y |
PBL | de novo |
47,XX,+mar[54%]/ 46,XX[46%] |
inv dup(13)(qter→q31: :q31→qter) | different FISH probes as specified in {4} | see below | {4} case 1; {12} {14; 16; 25; 27} |
| at birth weight and OFC ~3. centile; at 4y OFC normal but weight at 97. centile; additionally mild convergent strabismus, bitemporal narrowing, hypertelorism, clinodactyly 5. finger; 2/3 syndactyly of feet. | ||||||||
| 13- N- qt31/ 1-2 |
male/ 4y |
PBL | de novo | 47,XY,+mar[60%]/ 46,XY[40%] |
inv dup(13)(qter→q31: :q31→qter) | midi; different FISH probes as specified in {8} | see below | {8} case 13e {10} case 2; {12; 16; 44} |
| normal growth, thick eyebrows and hypertelorism, strabismus, deformed lobes, mild mental retardation ; seizures; excess teeth; PDA; diaphragmic hernia, bronchial anomalies, intestinal malrotation, scoliosis, hypospadias | ||||||||
| 13- N- qt31/ 1-3 |
female/ 7y |
PBL/ skin fibroblasts |
de novo | blood and
fibro: 47,XX,+mar[13%]/ 46,XX[87%] |
inv dup(13)(qter→q31: :q31→qter) | all centromeric probes; cosmids for 13q14.2, 13q32-33, 13qtel; CGH | see below | {13; 16; 25} |
| born at 36 weeks gestation after a normal pregnancy; weight 2.9 kg, treated for jaundice with 1 day of phototherapy; mild motor developmental delay. She sat at 8months, crawled at 10 months, stood up at 1 year, and walked at 18 months. She was able to say ‘‘mummy’’ and ‘‘daddy’’ at 9 months, and knew a series of words at 18 months. At 7y presence of soft dysmorphic features, concerns about her behavior and progress at school, torticollis present from birth, reported but unconfirmed left-sided hearing loss and parentally-described hyperactivity at school. Previous dental examination had revealed the presence of a complete extra set of teeth. At school, she interacted well with the other children and was in the correct year for her age, but did have extra lessons for mathematics and reading. On examination, her occipitofrontal circumference was 54 cm (98th centile), her weight was 32 kg (90th centile), and height 128.2 cm (75-90th centile). She had bilateral epicanthic folds, a long smooth philtrum, a large fleshy left earlobe, and right torticollis. She was noted to be asymmetrical and her right arm diameter was 1 cm larger than the left. She also had pes planus. There was no evidence of any neurological deficit and her gait was normal. Following she developed episodes reminiscent of absence seizures. During these episodes she was noted to stare vacantly into space for up to a minute. The EEG showed generalized spike and slow wave discharges confirming primary generalized epilepsy. She was started on sodium valproate. Investigations showed that she had small thoracic ribs bilaterally. A renal ultrasound was normal. | ||||||||
| 13- N- qt31/ 1-4 |
female/ prenatal |
AF/ PBL | de novo | 47,+mar[?%]/ 46[?%] |
inv dup(13)(qter→q31: :q31→qter) | CGH, cep probes, wcp probes, subtelomere probes | see below | {18, 20, 21, 30} |
| amniocentesis in week 24 due to suspect ultrasound with large cisterna magna, no renal differentiation, hypotelorism and ventriculomegaly; TOP; autopsy confirmed facial dysmorphism and renal dysplasia | ||||||||
| 13- N- qt31/ 1-5 |
male/ 3m |
PBL | de novo | 47,XY,+mar[100%] | inv dup(13)(qter→q22.3~31.1: :q22.3~31.1→qter) | M-FISH subtelomere probes; MCB | see below | {23}case Neo #13-6 |
| Born at term by cesarean section after uneventful pregnancy. Birth weight 3600 g, birth length 49 cm. At 3-months developmental delay, poor sucking; weight 5660g (25-50th centile), length 62 cm (25-50th centile) head of circumference (OFC) 40.3 cm (25-50th centile); Hemangiomas in frontal region, pit on right ear helix, hypertelorism, left epicanthal fold, broad and flat nasal bridge, bulbous nasal tip, anteverted nares, long philtrum, mild micrognathia, wide anterior fontanel, broad thumbs, toe syndactyly. Abdominal ultrasonography and echocardiography were normal; cranial CT → Dandy-Walker variant, arachnoid cyst at temporal lobe posteromedial region, porencephaly at left caudate nucleus and frontal white matter; cerebellar vermis dysplasia: broad fourth ventricle, mega cisternae magna, mild cortical cerebral atrophy. Cerebral mild dysmyelinization. | ||||||||
| 13- N- q31.1/ 1-1 |
see McCl-13-N-q31.1/1-1 | |||||||
| 13- N- qt31.1/ 2-1 |
male/ prenatal |
AF | de novo | 47,XY,+mar[100%] | inv dup(13)(qter→q31.1: :q31.1→qter) array: size 32.9 MB |
aCGH | see below | {51} |
| at 12 weeks estimated gestational age (EGA) cystic hygroma and IUGR; At 14 and 17 weeks EGA still IUGR, short long bones, persistant cystic hygroma, mega cisterna, cerebellar hypoplasia, hyperechogenic and large kidneys. TOP at 17 weeks EGA. Pathology showed weight 159 g (~50th centile), length 20 cm(~50th centile), and OFC 12.5 cm(~10th centile), cranio-facial dysmorphy with a ‘‘V’’-shaped metopic suture, deep-set eyes, shortflattened nose, small and low-set ears, short buccal frenulum, cystic cervical hygroma, as well as postaxial polydactyly of the right hand and left foot with short fingers, micropenis with hypospadias. | ||||||||
| 13- N- qt31.1/ 2-2 |
male/ prenatal |
PBL | n.a. | 47,XY,+mar[30]/ 46,XY[20] |
inv dup(13)(qter→q31.1: :q31.1→qter) array: size 32.7 MB |
aCGH | no clinical signs as newborns | {59} case B |
| 13- N- qt31.1/ 2-3 |
female/ prenatal |
AF PBL buccal swab spinal ligament |
de novo |
in AF: sSMC
41% in PBL: 47,XX,+mar[28]/ 46,XX[2] blood interphase: 50% buc muc: sSMC 25% Spinal ligament: 80% |
inv dup(13)(qter→q31.1: :q31.1→qter) hg19: break in 83,666,539 neocentr in 13q22 |
aCGH; FISH |
gross motor delay, hypotonia, left microphthalmia, oculomotor apraxia, strabismus, mild dysmorphism, congenital anomaly of the right optic nerve, hemangiomas, tethered spinal cord requiring laminectomy | {77} |
| 13- N- qt31.3/ 1-1 |
n.a./ prenatal |
AF | de novo | 47,+mar[100%] | inv dup(13)(qter→q31.3: :q31.3→qter) array: size 24.2 MB |
aCGH | in week 19 of gestation in sonography: enlarged stomach, postaxial polydactyly, increased nuchal translucency; TOP | {45} |
| 13- N- qt31.3/ 1-2 |
male/ 15y |
PBL | de novo | 47,XY,+mar[8]/ 46,XY[12] |
inv dup(13)(qter→q31.3: :q31.3→qter) array: 93.37 to qter; besides dup 15q13.3 de novo |
different FISH-probes; aCGH | seizures, cleft palate, and learning difficulties | {50} case 12 |
| 13- N- qt31.3/ 2-1 |
female/ prenatal |
AF | de novo | 48,XX,+marx2[100%] | inv dup(13)(qter→q31.3: :q31.3→qter) array [hg19]: 92.51 to qter |
aCGH | enhanced NT, TOP; IUGR, dysmorphic face, disproportions | {58} |
| 13- N- qt32/ 1-1 |
female/ 1d |
PBL/ fibroblasts |
de novo | 47,XX,+mar[98%]/ 46,XX[2%] (sSMC in fibroblasts 8%) |
inv dup(13)(qter→q32: :q32→qter) | alpha-, beta-satellite satIII, telomeric , all wcp , YAC-probes (not specified) | see below | {2} case 4 {6} {8} case 13f {11; 12; 16; 25; 44} |
| at birth agenesis of right eye, microphtalmia of left eye, microcephaly, scaphocephaly; bulbous nose, short neck, congenital heart defect; agenesis of corpus callosum, 11 ribs; profound DD, died at 3d due to heart defect; | ||||||||
| 13- N- qt32/ 1-2 |
female/ 1w |
PBL | de novo | 48,XX,+marx2[15%]/ 47,XX,+mar[75%] 46,XX[5%] at birth At 7y 5/75/20 |
inv dup(13)(qter→q32: :q32→qter) | wcp 13; cep13/21, 14/22, 15, 16, X; probe in 13q32-q33 and subtelomere probe 13q | see below | {7; 12; 16} {8} case 13h {44} |
| at birth right microphtalmia and coloboma, plus tumor of right optic nerve, malformed ears with preauricular ear pit, hemangiomas on forehead, scalp and neck, syndactyly 2./3. toes; At 7y moderate mental retardation, seizures, dysmorphic features, high arched palate, poorly implanted decayed teeth, obese, bulbous nose, bifid tip, epicanthus, early hypotonia, later ataxia and hemiparesis, PDA at birth but normal at 11y | ||||||||
| 13- N- qt32/ 1-3 |
male/ 1w |
PBL/ fibroblasts | de novo | 47,XY,+mar[100%] (sSMC in fibroblasts 100%) |
inv dup(13)(qter→q32: :q32→qter) | FISH as specified in {8} | see below | {8} case 13g {12} {14; 16; 44} |
| at birth up to 5y normal weight; at 8y below normal weight; normocephaly, bifid nose anteverted nostrils, hypertelorism, iris and choroid coloboma, seizures, hypotonia, MRI at 10y shows swollen gray matter, hemangiomas of head and back; tapering fingers; died at 10y | ||||||||
| 13- N- qt32/ 1-4 |
male/ 6m |
PBL | de novo | 48,XY,+marx2[26%]/ 46,XY[74%] at age of 7y at 6m the two sSMC in 3/25 cells |
inv dup(13)(qter→q32: :q32→qter)x2 | different FISH probes as specified in {4} | see below | {4} case 3; {12; 16; 25} |
| at birth overlaying occiput which was asymmetrical; low-set ears; eyes widely spaced and cyst in right eye; from 6m on DD; from 21m on seizure disorder; hypertelorism, ptosis of right eyelid, anteverted nares | ||||||||
| 13- N- qt32/ 1-5 |
female/ 2y |
PBL | n.a. |
47,XX,+mar[12%]/ 46,XX[10] |
inv dup(13)(qter→q32.3: :q32.3→qter) | MCB, subtel | MR | {74, case 3} |
| 13- N- qt32.2/ 1-1 |
male/ newborn |
PBL | de novo | 47,XY,+mar[95%]/ 46,XY[5%] |
inv dup(13)(qter→q32.2: :q32.2→qter) aCGH: 99.5 to 13qter |
aCGH | see below | {56} |
| pregnancy complicated by chronic hypertension, anemia and a history of marijuana use. At birth weight 2.03 kg, length 40 cm, head 30.5 cm, mild splenomegaly; apnea on fourth and bradycardia on sixth day of life; episode of suspected seizure/tremor activity on ninth day of life; at 9 weeks, stridor secondary to mild laryngomalacia and moderate reflux; failure to thrive, weight (2.58 kg), length (46 cm) and head circumference (33 cm) all below the third percentile; multiple hemangiomas on the tip of the nose, the mid-forehead, the scalp, and the sacrum; micrognathia, posterior rotation of the ears, sacral dimples, tag, and cleft. MRI showed tethered cord with conus medullaris terminating at the L4–L5 interspace. Three months later, found dead of sudden infant death syndrome (SIDS). No additional abnormalities were found at autopsy. | ||||||||
| 13- N- qt32.3/ 1-1 |
n.a./ newborn |
PBL | de novo | 49,+marx3[23%]/ 46[77%] |
inv dup(13)(qter→q32.3: :q32.3→qter)x3 | aCGH, subtelomere FISH | Died shortly after birth, very dysmorphic, low set and abnormal ears, preauricular pits | {41} |
| 13- N- qt32.3/ 2-1 |
see PsMcCl-13-N-q32.3/1-1 | |||||||
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other neocentromere 13 cases (no sSMC): reference {4} 1 case {16} reference {8} 2 cases {16} reference {17} 1 case reference {21} 1 case reference {46} case 3 |
| 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 |
| 13- N- p or q/ 1-1 |
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| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding and final FISH result | test methods |
clinical
symptoms |
Reference |
| 13- N- IMB- qter/ 1-1 to ?-1 |
see {40} | ||||||
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