FISH: D1Z1; BAC923C6 in 1p12 and RR6 in 1q12; midi-probe of case D in Ref {8}

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).

Delivery by cesarean section <--  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

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.

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).

Prenatal: normal in week 20; birth by cesarean section  <- 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.

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. (corrected)

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

IUGR of ~2 weeks, heart defect (single umbilical artery, small echogenic intracardiac focus), no over fetal anomalies noted in ultrasound at 18 2/7 weeks, TOP

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.

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

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

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

Large protruding tongue, small ventricular septal defect at birth, at age of 2y normal development

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.

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.

At birth w: 3,939g, l: 52.5cm, APGAR 7/10; right talipes equinovarus; at 2y hyperactivity, and attention deficit disorder.

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

Advanced maternal age; normal ultrasound, TOP in 25th week; Autopsy: slight craniofacial dysmorphism, bilateral camptodactyly, rocker bottom feet, but no organ malformation.

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.

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.

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

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.

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

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

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). dysmorphic face (repaired cleft lip, big and low-set ears, microretrognatia); angioma in the back.

Clinical signs similar to DiGeorge syndrome, however, no microdeletion 22q11.2 ; DiGeorge syndrome includes: heart defect, immune deficiency, dysmorphic face

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.

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

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.

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

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.

at 2 y: facial dysmorphism, MR, complex congenital malformations, tetralogy Fallot, cryptorchism, psychomotor retardation

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.

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.

Born at term after normal pregnancy; birth w and l 10th centile, OFC >20th centile; dysmorphic face (asymmetry, hypertelorism, low-set ears, micrognathia, broad nasal bridge, short philtrum, dimple between lower lip and chin, high palate, prominent occiput); simian crease; sacral dimple; at 9 m DD  of at least 2 months but no growth retardation; psychomotor developmental delay of ~1y; at 5.5y her language abilities had improved, she was able to form whole sentences, but she had difficulties to concentrate

Intrauterine fetal atrophy in week 24; TOP; autopsy confirmed mild intra-uterine growth retardation

normal girl suffering from AML-M5a at age of 2 y --> for larger neocentric marker in non-Hodgkin lymphoma see Ref {72}

Advanced maternal age and anxiety; no ultrasound abnormalities; birth by cesarean section, due to cardiac rhythm disturbances; child normal at 6m