| Patient ID |
Phenotype |
Array CGH platform |
Dosage anomaly |
Chromosomal band |
Sequence coordinates |
Min. size (kb) |
Inheritance |
Genes in interval |
ref |
| III-4 |
Psychomotor delay; short stature; cryptorchidism; scoliosis. Facial dysmorphism: facial asymmetry, short neck, downslanting palpebral fissures, long nose, small mouth, narrow ears, R epibulbar dermoid cyst, high arched palate and teeth abnormalities. Hypermetropia; conductive hearing loss. |
High
resolution karyotype
and FISH + Genosensor Array 300 array-CGH |
deletion |
1p22.2-
p31.1 |
Distance from
pter MB band
74-89.5 |
15600 |
Unknown |
FPGT, CRYZ, ACADM, RABGGTB, MSH4, ST6GALNAC3, ST6GALNAC6, PIGK, AK5, FUBP1, PTGFR, IFI44, LPHN2, PRKACB, DNASE2B, GNG5, CTBS, SSX2IP, EDG7, MCOLN2, MCOLN3, BCL10, DDAHI, CYR61, COL24A1, CLCA1/ CLCA2/ CLCA3, SH3GLB1, SEP15, HS2ST1, LMO4, PKN2, GTF2B,KAT3, GBP1/ GBP2, GBP3 |
[35] |
| 71401 |
L microtia, R preauricular tags, L pits, L mandibular hypoplasia, cleft palate, micrognathia |
105K |
Deletion |
2p11.2 |
87552703.
89275144 |
1722 |
F (P) |
RGPD2, PLGLB1, PLGLB2, KRCC1, SMYD1, FABP1, THNSL2, C2orf51, EIF2AK3, RPIA |
[10] |
| 80882 |
L preauricular tags, L mandibular, maxillary and facial musculature hypoplasia, L epibulbar dermoids |
44K |
Deletion |
2q11 |
99119770–
99167676 |
48 |
F (M) |
TSGA10, C2orf15, LIPT1, MITD1, MRPL30 |
[10] |
| 80039 |
IGR, B preauricular tags, R pit, L mandibular hypoplasia, R epibulbar dermoids, agenesis of the 12th rib pair |
105K |
Duplications |
4q35.113
q13.1 |
186295254–
186317114,
79675676–
81318868 |
221643 |
Unknown |
SLC25A4, KIAA1 430, SPRY2 |
[10] |
| n/a |
IUGR, short stature, “asymmetric macrostomia”, L cleft of upper lip and cleft-like extension of the L corner of mouth, submucous cleft palate, two epibulbar dermoids and two preauricular tags on L; L hemifacial microsomia, upslanting palpebral fissures, hypertelorism, epicanthi, broad nose and normal ears and limbs. Recurrent middle ear infections; hypernasal voice; language delay. Neonatal rombocytopenia, followed by severe myelodysplasia. |
44K and
244K Agilent
Technologies |
Deletion |
5(pter→
p15.33) |
[45,XX, inv(2)
(q32q37)mat,
dic(5;21)
(p15.3;q22.3)
dn] |
2000 |
S |
PLEKHG4B, CCDC127, SDHA, PDCD6, AHRR, C5orf55, EXOC3, SLC9A3, CTD-2228K2.7, CEP72, TPPP, ZDHHC11, BRD9, TRIP13, NKD2, SLC12A7, SLC6A19, SLC6A18, TERT, CLPTM1L, SLC6A3, LPCAT1, MRPL36, NDUFS6, IRX4, IRX2 (The smallest 5p deletion associated to OAVS features) |
[40] |
| 71329 |
B preauricular tags, L epibulbar dermoids |
105K |
Duplication |
8q11.23 |
53635269–
53719594 |
84 |
F(M) |
FAM150A, RB1CC1 |
[10] |
| 71681 |
B hearing loss, B mandibular hypopasia, high arched palate, block vertebrae C3C4 |
105K |
Duplication |
9q34.11 |
130591031–
130822006 |
230 |
F (P) |
TBC1D13, ENDOG, C9orf114, LRRC8A, PHYHD1, CCBL1, DOLK, NUP188, SH3GLB2 |
[10] |
| 82047 |
L microtia with preauricular tags, L mandibular hypoplasia, R epibulbar dermoids |
44 K Agilent
Technologies |
Duplication |
11q21 |
95725560–
95766136 |
41 |
F (P) |
CCD82, JRKL |
[10] |
| 30214 |
IGR, MR, L microtia, preauricular tags and pits, L mandibular hypoplasia, wide L corner of the mouth, patent foramen ovale, short QT |
44 K Agilent
Technologies |
Deletion |
12p13.33 |
0–2309191 |
2309 |
De novo |
IQSEC3, SLC6A12, SLC6A13, JARID1A, CCDC77, B4GALNT3, NINJ2, WNK1, HSN2, RAD52, ERC1, FBXL14, WNT5B, ADIPOR2, CACNA2D4, LRTM2, DCP1B, CACNA1C |
[10] |
| n/a |
IUGR and polyhydramnios; delayed psychomotor development; axial hypotonia and peripheral hypertonia,. Craniofacial dysmorphism: broad nasal tip, thin upper lip, mild hypertelorism, bilateral dysplastic low-set ears with over-folded helix, L microtia, L preauricular tag and pit, wide L corner of the mouth, and L hemifacial microsomia with L mandibular and condylar hypoplasia; wide-spaced teeth; gingival hypertrophy. Lumbar kyphosis; patent foramen ovale; moderate L conductive hearing loss. MRI showed L temporal arachnoid cyst with widened sub-arachnoid spaces. |
44 K Agilent
Technologies |
deletion |
12(pter→
p13.33) |
between BAC
RP11-275A6
(73.9 Mb, 1p31.1)
and RP5-
908D6
(89.5 Mb, 1p22.2) |
2300 |
S |
IQSEC3, SLC6A12, SLC6A13, JARID1A, CCDC77, B4GALNT3, NINJ2, WNK1, HSN2, RAD52, ERC1, FBXL14, WNT5B*, ADIPOR2, CACNA2D4, LRTM2, DCP1B, CACNA1C (* highlighted by the authors as candidate gene.) |
[42] |
| III-4 |
Defects on aural, oral, mandibular, and vertebral development. Cardiac, pulmonary, renal, skeletal, and CNS anomalies. |
qChip-Post;
qGenomics SL) |
duplication |
14q23.1 |
56,278,628-
57,623,179 |
1034 |
AD |
AK024921, BC041486,C14orf105, C14orf37, LOC145407, EX9OC5, SEC10, MUDENG, NAT12 , OTX2*, SLC35F4 (*In common with [45]) |
[44] |
| n/a |
IUGR; failure to thrive; torticollis; high arched palate; multiple skin tags and pits in preauricular and cheek regions; low set ears with abnormal antihelix and ear lobe; micrognathia with severe hypoplasia of mandible; bilateral facial clefts; short nose with broad nasal bridge; short palpebral fissures and lacrimal duct stenosis. Short neck with usion of the pedicles and laminae on the L at C2–4. Hearing loss; L ear Eustachian tube dysfunction; R ear adhesive otitis media. Anterior ventricular septal defect. 5 cm meningocele and thin corpus callosum on MRI. Deep sacral dimple associated with conus tip at L3 with mild thickening and fatty infiltration of the filum terminale. Small kidneys; hypoplastic genitalia. |
244K and
44K Agilent Technologies |
duplication |
14q22.3–
q23.3 |
14q22.3
at ∼55.774 Mb to 14q23.3 at ∼
67.571 Mb |
11790 |
F (P) AD with variable expressivity |
OTX2*, PSMA3, DAAM1, RTN1, SIX6*, SIX1*, SIX4, MNAT1, PRKCH, HIF1A, KCNH5, PPP2R5E, SYNE2, ESR2, ZNF46, HSPA2, SPTB, GPX2, FNTB, MAX, FUT8, MPP5, PIGH, ARG2, RDH11, RDH12 (*Proposed by the authors to be implicated in a OAVS/BOR phenotype) |
[45] |
| 71016 |
B anotia, B mandibular hypoplasia (R>L), retrognathism, high arched palate |
105K |
Deletion |
14q32.2 |
98250689–
98253385 |
2.7 |
M |
C14orf177 |
[10] |
| n/a |
IUGR, Hypotonia, acute dyspnea, recurrent respiratory infections, and gastrointestinal reflux, moderate psychomotor delay, cL of the soft palate, R grade IV microtia and hemifacial microsomia due to malar and mandibular hypoplasia, bilateral conductive hearing loss. Myopia and strabismus. neonatal hypotonia, growth retardation, mental retardation, facial dysmorphism. |
60 K Agilent Technologies |
deletion |
15q24.1
q24.2 |
74,419,546-
75,931,476** |
|
S |
STRA6, CCDC5, CYP11A1, UBL7, ARID3B, CLK3, CPLX3, GOLGA6C, GOLGA6D, SIN3A, PTPN9, MAN2C, CSK (according to the figure 2) |
[46] |
| Case 4 |
Round, asymmetric face, cup-shaped protruding ears, smooth philtrum; cognitive impairment, microphallus, hypotonia; recurrent ear infections |
oligonucleotide Chromosomal
Microarray
Analysis
(CMA Versions
6 and 7 OLIGO) |
deletion |
15q24 |
70.708–
73.856 Mb (htg19) 74,419,546-
75,931,476 |
3148 |
S |
STRA6, CYP11A1, SEMA7A, CSK, CPLX3, MPI, and SIN3A (defined as the minimum critical region for the 15q24 deletion syndrome ) |
[47] |
| 40373 |
R grade III microtia with preauricular tag, mandibular hypoplasia |
244K |
duplication |
18p11.23–
p11.31 |
6932021–
8074805 |
1142 |
F (P) |
PTPRM, LRRC30, LAMA1 |
[10] |
| 70588 |
R microtia with preauricular tag, R hemifacial microsomia, R microphtalmia, hemivertebrae T1, R renal agenesis, abnormal ribs, learning disabilities |
105K |
duplication |
20p12.2 |
9971936–
10124896 |
153 |
F (M) |
ANKRD5 |
[10] |
| n/a |
IUGR, bilateral cL lip and palate, L macrostomia, multiple bilateral preauricular tags, and small external auditory canals; microcephalic. Developmental delay. Multiple ventricular septal defects. |
High resolution G-banding
(∼850 band
level) and
OaCGH44K array |
deletion |
22q11.21–
q11.22
(hg18 assembly) |
20128705–
21246612
20,453,484-
20,551,970 |
1118 |
S |
HIC2, LOC220686, UBE2L3, LOC150223, CCDC116, SDF2L1, PPIL2, YPEL1, MAPK1, PPM1F, TOP3B, VPREB1, LOC96610, SUHW2, SUHW1, PRAME |
[50] |
| Patient 1 |
L hemifacial microsomia, coloboma of upper L eyelid, cL palate, small mouth, asymmetric mandibular hypoplasia, bilateral preauricular tags, microtia with aural atresia of L ear. Absence of external auditory meatus and dysgenesis of inner ear system on L; hearing loss in L ear. CHD (double outlet R ventricle with valvular and infundibular pulmonary stenosis, subaortic ventricular septal defect, and normally related great arteries). Hypocalcemia secondary to hypoparathyroidism. T-lymphocyte count low, serum immunoglobulin concentrations normal. |
FISH with
N25 probe |
deletion |
22q11.2 |
See N25 probe coordinates |
22q11.2 |
S |
"genes located inside the 22q11.2 “critical region,” including TBX1 and UFD1L" |
[51] |
| Patient 2 |
Prominent forehead with a receding hairline, mild facial asymmetry (smaller R cheek ), asymmetric crying facies R facial droop. R ear microtia with preauricular tag and atresia, low-set L ear with overfolded, thick superior helix. R internal ear anomalies (prominent vestibule, no lateral semicircular canal); R-sided hearing loss. Sacral dimple, long fingers. Feeding and respiratory difficulties , severe gastro-esophageal reflux. CHD (aberrant R subclavian artery, patent foramen ovalis, trivial tricuspid regurgitation). Brain MRI - open fronto-temporal operculum with persistent cavum septum pellucidum, mild widening of foramen of Magendie and cisterna magna. |
FISH with
N25 probe |
deletion |
22q11.2 |
See N25 probe coordinates |
22q11.2 |
S |
"genes located inside the 22q11.2 “critical region,” including TBX1 and UFD1L" |
[51] |
| Patient 3 |
Hemifacial microsomia, periorbital fullness, broad nasal root, bulbous nasal tip, hypoplastic nares, submucous cL palate, small mouth, L microtia with aural atresia, small R ear with simple protruding helix, tapered fingers, sacral dimple, and butterfly vertebra at T8 and T10. Developmental delay; bilateral optic nerve hypoplasia; R ear hearing loss. CHD (small atrial septal defect ostium secundum type). Dysphagia, feeding difficulties and laryngomalcia. |
FISH with
N25 probe |
deletion |
22q11.2 |
See N25 probe coordinates |
22q11.2 |
De novo |
"genes located inside the 22q11.2 “critical region,” including TBX1 and UFD1L" |
[51] |
| Patient 2 |
Bilateral ear tags, hemifacial microsomia epibulbar dermoid; postnatal growth restriction. (Note- Maternal Diabetes) |
Illumina Human CytoSNP-12 v1.0 BeadChip |
deletion |
22q11.2 |
19,782,237–
22,969,069 |
3200 |
S |
Not listed |
[52] |
| n/a |
Sparse hair, frontal bossing, flat nasal bridge, facial asymmetry with asymmetric retrognathia, bilateral mandibular hypoplasia, branchial cL sinus, R-sided muscular torticollis, esotropia, atretic R ear canal with mild-to-moderate sensorineural hearing loss, preauricular ear tag on L and larger ear tag associated with the tragal cartilage on the R, assymetric ears with simplified helices, R preauricular pit and two skin tags on L cheek. Bilateral clinodactyly, tapered fingers, L lower extremity shorter than R, sacral dimple and hypotonia. |
Combimatrix CMDX BAC
array + FISH
(VYSIS
probes D22Z1,
and TUPLE1) |
duplication |
22q11.1–
q11.21 |
17,381,569–
18,618,107** |
1500 |
S |
CECR1, CECR2, CECR3, CECR5, CECR6, CECR7, GAB4, AS1, IL17RA, ATP6V1E1, BCL2L13, BID, MIR3198-1, MIR648, FLJ41941, PEX26, TUBA8, MICAL3, USP18, G6T3P |
[54] |
| n/a |
Short stature and icrocephaly. R-sided facial cleft; R-sided external auditory canal atresia and bilateral conductive hearing loss; flattening of zygoma; mandibular asymmetry; bilateral epicanthal folds; myopia. Mild lumbar lordosis. IQ of 77. |
Nimblegen oligo12-plex array +
FISH
(RP11-829C4) |
duplication deletion |
22q11.1
q11.21 22q11.21
q11.22 |
20000000-
21/22000000 |
1100 |
unknown |
22q11.1q11.21 dup: IL17RA, CECR1, CECR2, SLC25A18, ATP6V1E1, BID, MICAL3, PEX26, TUBA8, and USP18.
22q11.21q11.22 del: HIC2, RIMBP3B, RIMBP3C, UBE2L3, SDF2L1, MIR130B, PPIL2, YPEL1, MAPK1, TOP3B, VPREB1, PRAME, GGTLC2, and RTDR1. |
[55] |
| 71178 |
IGR, B anotia, R mandibular and maxillary hypoplasia, macrostomia, cL palate, L epibulbar dermoids, micrognathia, block cervical vertebrae |
105K |
duplication deletion |
Yp-q11.221,
Yq11.222–
q12 |
2715688–
18073734 and
19492239–
57432638,
respectively |
15000 and 38000, respectively |
S |
Y (not all genes listed) |
[10] |
| 81232 |
R preauricular tags, R mandibular hypoplasia, R epibulbar dermoids |
105K |
amplification |
Xp22.33 |
3588423–
3645922 |
57 |
F (P) |
PRKX |
[10] |
| 71174 |
R microtia with preauricular tags and pits, R hemifacial microsomia, micrognathia, asymmetric legs and R breast hypoplasia |
105K |
47, XXX |
Trisomy X |
|
X |
S |
X (not all genes listed) |
[10] |
| Key |
|
|
|
|
|
|
|
|
|
| n/a |
not available |
|
|
|
|
|
|
|
|
| ** |
htg19 genome build, all other loci are in htg18 |
|
|
|
|
|
|
|
|
| L |
left |
|
|
|
|
|
|
|
|
| R |
right |
|
|
|
|
|
|
|
|
| CHD |
congenital heart disease |
|
|
|
|
|
|
|
|
| F |
familial |
|
|
|
|
|
|
|
|
| M |
paternal |
|
|
|
|
|
|
|
|
| P |
maternal |
|
|
|
|
|
|
|
|
| S |
sporadic/de novo |
|
|
|
|
|
|
|
|
| AD |
autosomal dominant |
|
|
|
|
|
|
|
|
**htg19 genome build, all other loci are in htg18 |
