ChromosOmics - Database

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                                                  -  CHROMOSOME #1 -                                                 
ABNORMAL
Cases with clinical findings (W)


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
01-
W-
p22.1/
1-1
°°°
 female/
<1y		 PBL
de novo		 47,XX,+mar[76]/
46,XX[14]		 min(1)(:p22.1→q12:)
aCGH: break in
1p22.1 at 101.3 Mb		 aCGH;
wcp 1		 history of severy infections after birth; slight developmental delay, muscular hypotonia {0} provided by the family
01-
W-
p2?/
1-1		 n.a./
 postnatal		 PBL de novo 47,XN,+mar[25%]/
46[75%]		 r(1)(::p2?→q1?::)*
size >13.9 MB		 n.a. and subcenM with 3 BACs mental retardation (mild) {51} case 2
01-
W-
p21.3/
1-1		 female/
 n.a.		 PBL
 		n.a. 47,XX,+mar[100%] r(1)(::p21.31→q25.2::)
98.25-174.81 MB		 midi; array CGH
 		Stickler-syndrome like, i.e. dysmorphic face, vision impaired hearing loss, joint problem {0} provided from Denmark
01-
W-
p21.1/
1-1		 see 01-U-10
01-
W-
p21.1/
2-1
°°°
 male/
prenatal		 AF
 		de novo 47,XY,+mar[10/
46,XY[11]		 min(1)(:p21.1→p11:)
104.9-129.5 MB [hg19]		 aCGH; FISH advanced maternal age; TOP; autopsy: hypotelorism, low-set ears, micrognathia, bulbous nose, small mouth clinodactyly {81}
01-
W-
p21.1/
2-2
 		male/
35y		 PBL
 		n.a. 47,XY,+r[30%]/
46,XY[70%]		 r(1)(::p21.1→q12::)
arr (hg19) bp in p-arm: 107,177768		 cenM, subcenM, aCGH
 DD, autism
 {0} provided from Germany
01-
W-
p13/
1-1
°°°
 female/
5y
 		PBL de novo 47,XX,+r[30%]/
46,XX[70%]		 r(1)(::p13→q10::)* FISH: D1Z1; BAC923C6 in 1p12 and RR6 in 1q12; midi-probe of case D in Ref {8} mild DD, minor dysmorphism {8} case B
01-
W-
p13/
1-2
°°°
 female/
1y
 		PBL de novo 47,XX,+r[30%]/
46,XX[70%]		 r(1)(::p13→q10::) midi; UPD test see below {5} case A
Born at term after uneventful pregnancy; birth w: 3,800g; at 6y: DD (sitting not before 1y); at 13 y no walking without support); severely MR with autistic symptoms, no speech; general muscular hypotonia in combination with ataxia; growth retardation weight -2 SD, but normal height (+1 SD); dysmorphic face (cleft palate, long face with small, up-slanting palpebral fissures, long nose, small chin, featureless philtrum, micrognathia, high arched palate).
01-
W-
p13/
2-1
°°°
 male/
15m		 PBL de novo
47,XY,+r[20]/
46,XY[80]		 r(1)(::p1?3→q1?1::)* different FISH-probes:
D1Z5, wcp		 see below {11}
Delivery by cesarean section and breech position of fetus; born at 36 weeks; birth w: 2,600g; l: 47.5cm; at 1y DD (sitting; standing with support); delay of ~6m in development; dysmorphic face (asymmetric skull with plagiocephaly, flat occiput; double vertex hair whorl, epicantal folds, slight hypertelorism, protuberant eyes); clinodactyly of 4th toes; general hypotonia; anxious and over excitable behavior
01-
W-
p13/
3-1
 female/
 1w		 AF de novo 47,XX,+r[6]/
46,XX[19]		 r(1)(::p13→q21.3::) midi see below {13} case 3
Prenatal: polyhydramnion and two-vessel umbilical cord; born in week 35, growth retardation, microcephalus (<3rd percentile), normal length; dysmorphic face (mild brachycephaly, small anterior fontanel, micrognathia, cleft palate, abnormal ears); hypoplastic nails; patient died 6 weeks later.
01-
W-
p13/
4-1
 male/
15y		 PBL de novo 47,XY,+r[13]/
46,XY[80]		 r(1)(::p13→q23::) wcp probes 1, 9, 16 see below {10}
pregnancy complicated by mat. hypertension; birth w: 2,727g; l: 48cm; APGAR 5/10; at birth: bilateral glaucoma; at 4 m: failure to thrive; at age of 23 m no sitting or walking, growth retardation: weight and length <3rd centile; at 3.5y: cataract formation in right eye; at age of 8.5y seizures started; at age of 15y: confined to wheelchair; severe psychomotor retardation; small and short stature; microcephaly; megalocornea; dysmorphic face (up slanted palpebral fissures, short philtrum, cupped ears).
01-
W-
p13.3/
1-1
°°°
 male/
4.25y		 PBL/ buccal mucosa de novo 47,XY,+r[7]/
46,XY[43]
(in buccal mucosa 3 signals in 9%)		 r(1)(::p13.3→q10::) midi; wcp1, cep1, YAC for 1p13.2 see below {18}
Prenatal: normal in week 20; birth by cesarean section due to breech position + umbilical cord compression in week 42; birth w: 3,025g (10th centile); l: 51cm (50th centile); OFC: 34cm (10-25th centile); APGAR 9/10/-; motor development and global development delayed (walking 3y; no speech up to 3.5y); at 4.25y w 14kg (3rd centile), h 106cm (50th centile); microcephaly; dysmorphic face (myopatic face with open mouth at rest, mild ptosis, mild hypertelorism, slight down-slating palpebral fissures, epicanthic folds, over folded helices with mild ear protrusion); short 5th finger with clinodactyly, congenital hypotonia, hyper extensibility of joints, severely MR, attention deficit disorder, auto aggressive episodes, autistic symptoms.
01-
W-
p13.3/
2-1
 		male/
 ~2y		 PBL de novo 47,XY,+mar[3]/
46,XY[14]		 r(1)(::p13.3→q21.2::)
112.16-148.40 MB		 CGH, subcenM, midi, array-CGH 10y: DD and learning difficulties 11y: no DD any more, adequate growth (h: 148.5 cm; w: 44kg; OFC 51.25 cm; 10-25th centile), urethral problems: bilateral vesiculo-uretral reflux, bilateral inguinal hernia + dentition problems {0} provided from Portugal
01-
W-
p13.3/
3-1
°°°
 male/
prenatal		 AF n.a. 47,XY,+mar[13]/
46,XY[8]		 mar(1)(:p13.3→?q11.1:)* aCGH, M-FISH see below {74} case 1
amniocentesis due to advanced maternal age; due to sSMC termination of pregnancy at 26 weeks; autopsy: deep set infra-orbital creases, blepharophimosis, hypertelorism, broad nose, long philtrum, big mouth, bilat. camptodactyly, liver hypoplasia
01-
W-
p13.3/
4-1
°°°
 n.a./
prenatal		 fibro
(from fetus
after TOP)		 de novo 47,+mar[57%]/
46[43%]		 r(1)(::p13.3→q1?::)*
size 13.7 MB		 n.a. and subcenM with 3 BACs IUGR of ~2 weeks, single umbilical artery, heart with small echogenic intracardiac focus, no other fetal anomalies noted in ultrasound at 18 2/7 weeks, TOP {51} case 1
01-
W-
p13.2/
1-1
°°°
 male/
prenatal		 AF/
PBL		 de novo in AF: 48[13]/47[7]
PBL: 48,XY,+mar1, mar 2[20]/
47,XY,+mar1 or 47,XY,+mar2[7]/
46,XY[3]		 mar1: der(1)(:p13.2→q11:)
distal clone in p RP11-315M1 (114.0MB)
mar2: der(1)(:p11→q12:)
distal clone in q RP11-20J19 (141.3MB)		 different cep probes. different BAC probes Advanced maternal age and cleft palate prenatal. At term birth; w: 3,230g, unilateral cleft lip and palate, hypoplastic aortic arch, ventricular septal defect, patent ductus arteriousus. {20}
***
01-W-
p13.2/
1-2
°°°
 male/
prenatal		 AF n.a.
47,XY,+mar[13]/
46,XY[8]		 mar(1)(:p13.2→q1?:)
aCGH: 115.3-121.4 MB		 aCGH Advanced maternal age; TOP - autopsy: facial dysmorphism, bilateral camptodactyly and spleen hypoplasia {79} case 3
01-W-
p13.2/
2-1 		female/
10y		 PBL de novo 47,XX,+mar[18]/
46,XX[32]		 r(1)(:p13.2→q23.3:)
112.75-158.6 MB		 SKY,
aCGH		 see below {76}
Nomal pregnancy, at 6y: developmental delay, speech delay, unstable gaits, kyphoscoliosis, hyporeflexia, facial asymmetry, round face, depressed nasal bridge, epicantus, dysplastic, lowset ears, hypertelorism, prominent forehead, 5x5cm subcutaneous mass over occipital scalp = dermatofibrosarcome protuberans. weight 50 centile, heigth 85 centile; at 8y seizures, at 10y multiple exostoses over left thigh and osteochondroma
01-
W-
p12/
1-1
°°°
 female/
3.5y		 PBL de novo 47,XX,+r[5]/
46,XX[45]		 min(1)(:p12→q11:) cenM
subcenM		 see below {39}
{41} case 1-7
Born at term after uneventful pregnancy (at 41 weeks); birth w: 3,035g; l: 47,5cm; OFC: 34cm; hypertonic crisis with cyanosis 48 h after birth, and afterwards alternate hypotonia episodes with irritability crisis. With 3 m w of 4,250 g (5-10th centile), l 38cm (10-25th centile), dysmorphic face (mild facial angioma, low set ears, thin upper lip with a prominent philtrum, blepharophimosis); thin skin with eczemas; DD, psychomotor delay
01-
W-
p12/
2-1
°°°
 female/
1.5y		 PBL de novo 47,XX,+mar[15] min(1)(:p12→q12:)
(no telomere signals)
aCGH - 1p13.2p11 (112,435,112-
121,023,900 Mb)		 cenM
subcenM
telomere-FISH
aCGH		 psychomotor retardation; dysplasia of the kidney; seizures; retinal bleeding; chronically bronchitis. {1} case 11
{2} case 5
{0}
{78} case Sm-1
01-
W-
p12/
2-2		 female/
28y		 PBL de novo (? father n.a. for study) 47,XX,+mar[50%]/
46,XX[50%]		 min(1)(:p12→q12:) wcp1
subcenM-FISH		 see below {41} case 1-9
During pregnancy kidney problems of the mother; born 6 week preterm; birth w 2,250g; torticollis spasmodicum corrected at 10m; MR, focal epilepsy due to Arnold-Chiari-syndrome since 18m; w at 19y: 93kg = >P97; h: 172cm; OFC: 55.5cm; facial dysmorphism (asymmetry of the skull, hypertelorism, dysmorphic ears); sec. amenorrhea due to climacteric praecox caused by hormonal insufficiency
01-
W-
p12/
2-3
°°°

 female/
1m		 PBL de novo 47,XX,+mar[15%]/
46,XX[85%]		 r(1)(::p12→q12::)* midi; different FISH-probes:
D1Z1; probe BAC923C6 in 1p12 and RR6 in 1q12		 large protruding tongue, small ventricular septal defect at birth, at age of 2y normal development {8} case D
01-
W-
p12/
2-4
°°°
 female/
44y		 PBL de novo (?)
 		47,XX,+mar[8]/
46,XX[13] (at 35y);
at 42y mar in only 3/20 cells		 r(1)(::p12→q12::) cenM
subcenM		 see below {41} case 1-10
Birth w 2,300g, subsequent feeding problems; severe DD: no speech; generalized epilepsy (since childhood); since age of 12y psoriasis vulgaris; short stature (150 cm) microcephaly (HC 48 cm); dysmorphic face (asymmetric, low frontal hairline, ptosis, epicanthic folds prominent lips); mild camptodactyly of the fingers, short toes; has a full range of movements but has difficulty in mobility. CT scan: cortico-subcortical atrophy with wide ventricles and sulci.
01-
W-
p12/
2-5
°°°
 male/
3y
 		PBL de novo 47,XY,+mar[7%]/
46,XY[93]		 r(1)(::p12→q12::) SKY, BAC 923C3 in 1p12 see below {50} case 7
Born in week 38 of gestation. Birth w: 2,650g; at 1y mild DD and physical abnormalities; at 2y started walking but not speaking. Dysmorphic face (microcephaly, hypertelorism, almond like palpebral fissure, protruding eyes, anteverted nostrils); brachyclinodactyly of 5th fingers, tapering fingers.
01-
W-
p12/
2-6
°°°
 n.a./
n.a.		 PBL n.a. 47,+mar[100%] mar(1)(::p12→q12::)*
120.49-141.48MB		 aCGH DD MR; epicantal folds, low set ears, autistic features {0} provided from USA
01-
W-
p12/
2-7
°°°
 female/
prenatal 		CH n.a. 47,XX,+mar[4]/
46,XX[12]		 mar(1)(::p12→q1?::)*
120.21-121.30 MB		 aCGH Increased NT >4,55mm; TOP: Facial
dysmorphism,
ventricular
septal defect
and foot
abnormalities		 {79} case 2
01-
W-
p12/
3-1
°°°
 male/
1m		 PBL de novo 47,XY,+mar[80%]/
46,XY[20%]		 r(1)(::p12~11→q12::)* wcp 1, centromere-near YACs as specified in {17}
At birth w: 3,939g, l: 52.5cm, APGAR 7/10; right talipes equinovarus; at 2y hyperactivity, and attention deficit disorder
{17} case 2
01-
W-
p12/
3-2
°°°
 male/
10y		 PBL de novo 47,XY,+r[15%]/
46,XY[85%]
 		r(1)(::p12~p11→q12::)* wcp1, D1Z7 see below {21}
Born at term after uneventful pregnancy apart from polyhydramnion; excessive drooling ups up to 4y of age; atopic dermatitis, DD in all motor skills, at 10y poor concentration ability and inattentive, dysmorphic face (telecanthus, flat nasal bridge, up slanting palpebral fissures, prominent and swollen eyelids, midface recessed, long philtrum, low-set ears, high arched palate, short neck and low posterior hairline, HC at 98. centile); language delay; mental handicap
01-
W-
p12/
4-1
°°°
 male/
prenatal		 AF de novo 47,XY,+mar[13]/
46,XY[8]
mar detected in skin, lung, heart, kidney as well		 inv dup(1)
(:q12→p12::p12→q12:)*		 midi;
subcenM;
M-FISH		 AMA; normal ultrasound, TOP in 25th week; Autopsy: slight craniofacial dysmorphism, bilateral camptodactyly, rocker bottom feet, but no organ malformation. {33}
01-
W-
p12/
5-1		 female and male/
postnatal
 		PBL maternal
(16% only - mother mildly affected)		 47,+mar[71% or 54%]/
46[29% or 46%]
 		r(1)(::p12→q21.1::)
118.27-146.58MB
 		wcp, cep, array-CGH facial dysmorphism, low weight, camptodactyly of fingers 4 and 5, DD {73}
01-
W-
p12/
5-2		 female/
postnatal		 PBL de novo 47,XX,+mar[41]/
46,XX[150]		 r(1)(::p12→q21.1::)
~0.8MB in 1p and ~1.91 MB in 1q in euchroimatin		 pericentric BAC set facial dysmorphism, drug resistant focal seizures, MR {82} case 2
01-
W-
p11.2/
1-1		 female/
3.5y		 PBL de novo 47,XX,+mar[10%]/
46,XX[90%]		 r(1)(:p11.2→q24:)*
size 14.2-17.8 MB		 n.a.; subcenM with 3 BACs see below {51} case 3
DD; no walking or speaking at 33 months of age, although she does point, smile, and use some signs to communicate; dysmorphic features; strabismus; hyperopia; hydronephrosis; normal growth parameters at 15 and 33 months of age.
01-
W-
p11.2/
2-1		 male ?/
7y		 PBL de novo 47,+mar[66%]/
46[34%]		 mar(1)(:p11.2→q1?:) n.a.; array CGH
Behavior problems; autistic features; speech delay; mild MR; IQ = 68; at 7 ½ years of age the patient functions at a 5-year-old level.
{51} case 4
01-
W-
p11.2/
2-2
°°°
 male/
prenatal		 CH de novo 47,XY,+mar[10]/
46,XY[16]		 mar(1)(:p11.2→q1?:)* cep; array CGH
 		CVS due to cystic hygroma, TOP in week 26; pathology: dolichocephaly, high forehead, nose with large nares, deep set infra-orbital creases, ears not hemmed, 5th toe camptodactyly, long toes and fingers, excess skin. nuchal edema {74} case 2
01-
W-
p11.2/
3-1
°°°
 male/
14m		 PBL de novo 47,XY,+r[15%]/
46,XY[85%]		 r(1)(::p11.2→q12::)
BAC-breakpoint mapping:
120.84MB and 141.6 MB		 M-FISH; cep 1/5/19; BAC probes as specified {42} subcenM like; UPD test see below {42} case 1
Caesarian section at 32 weeks after IUGR; APGAR 8/9; at birth: w 910g (<3rd centile), l 34 cm (<3rd centile), OFC 27 cm (5th centile); at birth severe respiratory distress. At 14m all values persisted <3rd or ~5th centile. Psychomotor retardation, facial dysmorphism (face triangular with high forehead, frontal bossing, sparse eyebrows, long eyelashes, ectropion, anteverted nostrils, long philtrum, thin upper lip, high-arched palate, and small pointed chin, ears low-set with flat antihelices), body asymmetry and hypoplastic right side; pectus excavatum; cryptorchidism.
01-
W-
p11.1/
1-1		 female/
8y		 PBL de novo 47,XX,+mar[8]/
46,XX[12]		 min(1)(:p11.1→q12:) cenM
subcenM		 Born at 7th month; w: 2,350g, l 46cm; twin brother compared to which patient is retarded; no malformations apart from dysmorphic face and mild psychomotor retardation {41} case 1-14
01-
W-
p11.1/
1-2		 female/
2y		 PBL de novo 47,XX,+mar[60%]/
46,XX[40%]		 min(1)(:p11.1→q12:) cenM
subcenM		 see below {0} provided from Hungary
Born in 38. week after normal pregnancy; w: 3,050g; at 8 months: psychomotor DD; at 12 month: sitting, at 14 month: corpus callosum agenesis (MRI); at 27 months standing, MR; dysmorphic face (prominent forehead, irregular hair line, epicanthus on both side, markedly broad nasal root); clinodactyly of fifth finger, syndactyly between toes II and III, lateral deviation of feet and toes. Family history: Mother with cleft lip at birth. Father: severe CMV infection at the time of conception, the antibody titer of the mother during the pregnancy was normal/borderline
01-
W-
p11.1/
1-3		 female/
prenatal		 CH n.a. 50,XX,+mar1x4[1]/
48,XX,+mar1,+mar2)[1]/
48,XX,+mar1x2[4]/
47,XX,+mar1[8]/
46,XX[8]		 mar1: min(1)(:p11.1→q11:)
mar2: min(1)(:p11.1→q12:)		 cenM
subcenM		 CVS done due to repeated abortions; child abortet as well {0} provided from Germany
01-
W-
p11.1/
2-1
°°°
 male/
1m
PBL		 de novo 47,XY,+r[48]/
46,XY[52]		 r(1)(::p11.1→q21.1::) cenM
subcenM		 Born at 36 week by cesarean section; podalic presentation; w: 2,240g (3-25th centile), l: 43.5 cm (10-25th centile), OFC: 31 cm (10-25th centile). DYS (repaired cleft lip, big and low-set ears, microretrognatia); angioma in the back. {41} case 1-15
01-
W-
p11.1/
2-2
°°°
 male/
1y		 PBL de novo 47,XY,+r[5]/
46,XY[45]		 r(1)(::p11.1→q21.1::) cenM
subcenM
MCB		 Clinical signs similar to DiGeorge syndrome, however, no microdeletion 22q11.2 ; DiGeorge syndrome includes: heart defect, immune deficiency, DYS
 {2} case 4
{3} case 4
01-
W-
p11.1/
2-3
°°°
 male/
1w?		 PBL
de novo		 47,XY,+r[50%]/
46,XY[50%]		 r(1)(::p11.1→q21.1::)*
wcp 1, centromere-near YACs as specified in {17}		 see below {17} case 1
born with w: 2,960g, l: 49.5cm HC: 32cm; resuscitation needed postnatal due to severe respiratory distress; dysmorphic face (long philtrum, low hairline; high arched palate); limbgridle muscular hypotrophy; hypospadias with undescended testicles; bilateral club-foot; intestinal occlusion due to volvulus; infant died at 22 m.
01-
W-
p11.1/
2-4
°°°
 female/
2m		 PBL
de novo
 		47,XX,+mar[30%]/
46,XX[70%]		 min(1)(:p11.1→q11:)[50%]/
min(1)(:p11.1→q21.1:)[50%]		 cenM, subcenM
 		IUGR; birth at 29th week due to anhydramnion; congenital malformations: hypertrophic cardiomypathy, small mandible, dysmorphic face (dysplastic low set ears), limited joint movement; child died at 2 months of age {0} provided from Czech Republic
01-
W-
p11.1/
3-1
°°°
 male/
prenatal		 AF and
various tissues
PBL
(EKF-
cellbank)		 de novo 47,XY,+r[8]/
46,XY[52]
sSMC present in 13 to 60% of studied fetal tissues		 r(1)(::p11.1→q22::)
array-CGH: 105.98-188.41MB
r(1)(::p21.1→q31.1::)
 centromeric-probes, subcenM, MCB
aCGH
 		see below
 		{0}{43; 88} case 1
{47}
Heart defect detected in ultrasound - coarctation of aorta in week 20; holes in wall between chambers in week 24; TOP, postmortem report: no external or intracranial anomalies, apparently normal cardiac connections with probable tubular hypoplasia of aortic arch and coarctation at ductal level (weight: 1,975g, OFC: 31.5 cm); horseshoe kidney.
01-
W-
p11/
1-1
°°°
 female/
3y		 PBL de novo 47,XX,+r(1)(::p11→q22::)[15]/
47,XX,+r(1)(::p11→q22::q22→p11::)[45]
46,XX[340]		 n.a. n.a. see below {29}
Pregnancy complicated with high fever of unknown origin in 3rd month; delivery at term by cesarean section because of pelvic presentation; w: 2,900g; walking at 30m; at 37m height between 80.-90. centile, OFC at 60. centile, weight 17.5kg; dysmorphic face (round face, very low hair line, frontal hypertrichosis, thin curved eyebrows, slanting palpebral fissures, short wide nasal bridge, cavernous hemangiomas on right nasal side, anteverted nostrils, long wide philtrum, fish shaped mouth); short hands an feet, bilateral clinodactyly 5
01-
W-
p11/
2-1		 male/
prenatal; newborn		 AF and PBL de novo 47,XY,+mar[19]/
46,XY[1]
in PBL mar in 26/30 metaphases
r(1)(:p11→q11:)		 all centromeric probes, telomeric probes see below {35} case 6
Advanced maternal age; born at term by cesarean section and phenotypically normal. At 2 years was noted to have mild speech delay; had a raised strawberry hemangiomas in center of chest, but otherwise phenotypically normal.
01-
 W-
p11/
3-1		 female/
2y		 PBL n.a. 47,XX,+mar[35]/
46,XX[15]		 min(1)(:p11→q11:) midi;
subcenM		 clinically abnormal {78} case Sr-1
01-
W-
p11/
4-1
°°°
 male/
2y		 PBL de novo 47,XY,+mar[12]/
46,XY[48]		 r(1)(::p11→q23.3::)
aCGH: 143.88-162.88 (test J)
145.42-168.30 Mb (test C)		 cenM;
subcenM; aCGH		 at 2 y: facial dysmorphism, MR, complex congenital malformations, tetralogy Fallot, cryptorchism, psychomotor retardation {0} provided from Poland
01-
W-
p11/
5-1
male/
1y		 PBL n.a. 47,XY,+mar[20%]/
46,XY[80%]		 min(1)(:p11→q23.1:)
seq[GRCh37] 1q12q23.1(142,535,935_
157,648,813)x3		 BACs; CMA by NGS
 moderate DD, cataract, Pierre Robin sequence, semicircular canal malformation, laterally sloping lid axes, bicuspid aortic valve, renal pelvis enlargement, cleft palate, muscular hypotonia {0} provided from Leipzig, Germany
01-
W-
p10/
1-1
°°°
 female/
13y		 PBL de novo 47,XX,+r[35%]/
46,XX[65%]		 r(1)(::p10→q22:
:q22→q21.3::)*		 YACs as described in {26} see below {26}
Born at term after normal pregnancy; birth w: at 25. centile, l: at 10. centile, OFC: <3rd centile, APGAR 8/10/10; microcephaly, dysmorphic face (asymmetric and abnormal low set ears, broad nasal bridge, high arched palate, micrognathia); pilonidal dimple; cardiac murmur; cardiomegalie; chest asymmetry, VSD; psychomotor delay; growth retardation; kyphoscoliosis; at 15y microcephaly, dysmorphic face (low frontal hairline, down-slanting palpebral fissures, broad nasal bridge, large nose, short neck), hirsutism; MR; no speech.
01-
W-
p10/
1-2
°°°
 female/
3.5y
 		PBL de novo 47,XX,+r[8]/
46,XX[92]		 r(1)(::p10→q21:
:p10→q21: :p10→q21::)*		 YACs and BACs as described in {30}; midi; CGH; UPD test see below
 		{30}
Born at term after normal pregnancy; Birth w, l and OFC on the 3rd centile. At 1y statomotoric retardation; muscular hypotonia; microcephaly; dysmorphic features (mild high-arched palate, epicanthal folds); sitting at 1y. Up 2y no walking or standing upright without support; lack of language development, audiological tests normal. At 3.5y language and motor development delay; able to walk but used no language. Head circumference, height and weight between the 3rd and 10th centile. Motor skills and social interaction were decreased without autistic symptoms plus an attention deficit disorder. At seven years, progressed due to a special kindergarten program and showed age-matched social interaction.
01-
 W-
 p10/
 2-1
°°°
 see 01-Ud-2


W-Cases with similar imbalances NOT caused by sSMC (W-IMB)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
Inherited
 		GTG-banding and final FISH result test
methods
 		clinical symptoms
 		Reference
01-
W-
IMB-
q11/
1-1
°°°
 male/
postnatal		 PBL de novo 46,XY,dup(1)(q12q23) n.a. Severely retarded, psychomotor development, growth retardation, and multiple congenital malformations. {57}
01-
W-
IMB-
q11/
2-1		 female/
3y		 PBL de novo 46,XX,dup(1)(q11q25) no FISH resembling Proteus syndrome, i.e. skin overgrowth and atypical bone development. {54}
01-
W-
IMB-
q12/
1-1
°°°
 female/
1m		 PBL de novo 46,XX,dup(1)(q12q21) SKY; BAC-FISH
 Turner syndrome like; dysmorphic face (prominent nose, low-set, crumpled ears, slightly high palate); short neck; high-pitched cry; mild micrognathia; hypoplastic labia majora, somewhat deep palmar creases.
{63}
01-
W-
IMB-
q12/
2-1		 female/
16y		 PBL de novo 46,XX,der(X)ins(X;1)(q21;q12q21) wcp FISH Behavior and learning problems - the inserted part is subject to random X-inactivation {65}
01-
W-
IMB-
q12/
2-2		 female/
18y		 PBL de novo mos 46,XX,dup(1)(q12q22)/
46,XX		 n.a. Mentally handicapped. {56}
01-W-
IMB-
q12/
3-1
°°°
 female/
postnatal		 PBL de novo 46,XX,dup(1)(q12q21.3)
wcp 1		 DD, macrocephaly, dysmorphic face (asymmetry, small down turned palpebral fissures, high and narrow palate, micrognathia), short neck, a heart defect, and unilateral renal agenesis. {59}
01-W-
IMB-
q12/
4-1
°°°
 female/
16y		 PBL de novo mos 46,XX,dup(1)(q12q23)/
46,XX		 n.a. Pierre Robin syndrome with cleft palate, scoliosis, bilateral rneatal hypoplasia of the ear canals, hypertrophic obstructive cardiomyopathy, Wolff-Parkinson-White syndrome, severe mental retardation, and cerebral apalsy. Ophthalmologic examination revealed myopia and astigmatism {55}
01-W-
IMB-
q12/
5-1
°°°
 male/
postnatal		 PBL de novo 46,XX,dup(1)(q12q25)
 wcp 1 see below
 		{58}
Excessively wrinkled skin, mild micro/brachycephaly with mild hydrocephalus and slightly small temporal lobes, apparently low-set ears, retro/micrognathia and cleft soft palate (Pierre-Robin anomaly,) patent ductus arteriousus and foramen ovale, pulmonary hypoplasia, eventration of the left hemidiaphragm, right cryptorchidism, a sacral dimple, flexion contractures of fingers and knees, and equinovarus deformities of both feet
01-
W-
IMB-
q12/
6-1		 male/
postnatal		 PBL de novo 46,XY,dup(1)(q12q32.1)[72%]/
46,XY[28%]		 aCGH dysmorphic features {83} case 4


W-cases with unclear/insufficient characterization of the sSMC (CW)

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
01-
CW-
1		 male/
2.5y		 PBL de novo 47,XY,+mar[70%]/
46,XY[30%]		 r(1)(::q11→p11.2::1?::)
 		FISH with all centromeric probes:
D1Z1; BAC923C6 in 1p12, RR6 in 1q12; midi-probe of case D {8}		 Delayed speech and dysmorphic face (long face, ear-lobule creases, slightly up-slanting palpebral fissures, long nose with broad nasal bridge, mild micrognathia), bilateral clinodactyly of the 5th fingers and inverted nipples. {7} case 1
{8} case C
01-
CW-
2
 see 01-Ud-3
01-
CW-
3

 female/
7.5y		 PBL
 		de novo
 		47,XX,+mar[11]/
46,XX[49]		 ish r(1)(wcp1+,D1Z1/ D5Z2/D19Z3+)
wcp1; cep1/5/19		 see below {0} provided from New Zealand
Mild intellectual disability; height 75th centile, weight 97th centile, head circumference 2nd centile; dysmorphic face (brachycephaly, wide [&] depressed nasal bridge, epicanthus, bilateral ptosis, hypermetropia); hypotonic, generalized hypermobility; moderate bilateral hearing loss of high frequency.
01-
CW-
4

 female/
79y		 PBL de novo 47,XX,+mar[3]/
46,XX[50]		 ish r(1)(wcp1+) wcp1 see below {32}
Born at term (weight: 3,150g = 25th centile, OFC 31 cm = <10th centile), seizures from 4 months of age; at 2y no speech, gross motor delay, dysmorphic face (brachycephaly, asymmetric epicanthic folds, mild hypertelorism, thick bushy eyebrows, brachycephaly); at 5y walking but no speech; at 9y still speech and gross motor delay, epilepsy and behavior similar to Rett-syndrome.
01-
CW-
5
 male/
5y		 PBL
(EKF-
cellbank)		 paternal ?
mar in 2/50 metaphases		 47,XY,+mar[17]/
46,XY[3]		 min(1)(:p11.1→q11:)
no centromere-near euchromatin detectable		 cenM; aCGH Clinically abnormal; suspicion of fra(X) syndrome, developmental delay. {0} provided from Germany
01-
CW-
6
 male/
prenatal		 AF de novo 47,XY,+mar[13]/
46,XY[8]		 mar(1) 'pericentric region of 1p and 1q' M-FISH, wcp 1, subtel 1p and 1q, midi see below {44}
Advanced maternal age; TOP; autopsy in week 25 revealed slight craniofacial dysmorphism, bilateral campodactylia, rocker bottom feet, no organ malformations.
01-
CW-
7		 male/
10y		 PBL n.a. 47,XY,+mar[32%]/
46,XY[68%]		 ish r(1)(wcp+, D1Z1-) wcp1; cep1 Mentally retarded without dysmorphic features. {64} case 2
01-
CW-
8		 n.a./
prenatal		 AF de novo 47,+mar[38%]/
46[62%]		 r(1) wcp1; cep1 Sonographic malformations: IUGR, TOP. Fetopathology: Growth failure, hypotrophic placenta. {66} case 11