case no. 

gender

age at diagnosis

studied 
material

de novo/ 
inherited

GTG-banding result
grade of mosaicism

final FISH result of the sSMC

FISH
methods

UPD
result

clinical symptoms

reference

Amniocentesis due to advanced maternal age;  no ultrasound abnormalities; normal child born, normal at 14 months

Amniocentesis due to advanced maternal age; no ultrasound abnormalities; mother without any clinical signs; normal child born

normal male - with fertility problems

Amniocentesis due to  advanced maternal age;  normal child born; normal at 14m of age

no UPD 8
informative markers:
D8S1099; D8S1145 D8S1113;  D8S1132  D8S0373

Amniocentesis due to advanced maternal age; no ultrasound abnormalities; no clinical symptoms 2 years after birth

no UPD 8
informative markers:
D8S1119, D8S1132

Amniocentesis due to advanced maternal age; no ultrasound abnormalities; normal child born in gest. week 41; weight: 3160g; length: 51cm; head circumference: 32cm; Apgar score: 9; 9; 10 

n.a.

n.a.

n.a.

n.a.

case no. 

gender

age at diagnosis

studied 
material

de novo/ 
inherited

GTG-banding result
grade of mosaicism

final FISH result of the sSMC

FISH
methods

UPD
result

clinical symptoms

reference

amniocentesis due to echogenic bowels and increased values for TT; born in week 40 without complications; normal at age of 5m

case no. 

gender

age at diagnosis

studied 
material

de novo/ 
inherited

GTG-banding result
grade of mosaicism

final FISH result of the sSMC

FISH
methods

UPD
result

clinical symptoms

reference

no UPD 8:informative marker D8S167

mental retardation, hypotonia; wide mouth; slender fingers, height and weight <3rd centile

normal in ultrasound, cytogenetics due to advanced maternal age; normal at birth; at age of 2m slow growth, feeding difficulties; delayed psychomotor development hypotonia, poor visual contact; at 4m epileptic seizures with secondary generalization; at 5m those seizures evolved into spasms, at 11m severe developmental delay, micorcephaly, diffuse hypotonia, hypoplastic corpus callosum, after Vigatrin treatment child got better

clinical abnormal as described in {56}, ultrasound abnormalities, termination of pregnancy; autopsy performed and multiple abnormalities found

case no. 

gender

age at diagnosis

studied 
material

de novo/ 
inherited

GTG-banding result
grade of mosaicism

final FISH result of the sSMC

FISH
methods

UPD
result

clinical symptoms

reference

Born at term without complications; at birth, poor sucking at breast and evidence of frontopalpebral and sacral hemangiomas; main motor milestones achieved within the lower range of normality; expressive language abilities developed slowly; atypical behavior with several autistic features such as stereotyped conduct, avoiding gaze and echolalic language. At 3 y: OFC 51 cm (75th centile), weight 14 kg (50th centile), and height 105 cm (>90th centile). Minor facial anomalies: elongated face with high prominent forehead, bitemporal narrowing, high-arched eyebrows with lateral thinning, slightly down-slanting deep set eyes, flat nasal bridge with broad nasal tip, large mouth with thick lips and everted lower lip, high-arched and narrow palate, deep palmar creases; slender trunk with widely spaced nipples; significant hyper mobility of the shoulders and hyper flexibility of the finger joints .

born at full term after an uncomplicated delivery; at birth, poor sucking at breast and the evidence of frontopalpebral and sacral hemangiomas; main motor milestones were achieved within the lower range of normality; at 3y developmental delay and autistic like behavioral features. On first neurological examination no defective signs were present: his motor skills appeared quite appropriate for age,except for a not well coordinated deambulation with tendency to intrarotate his feet. On behavioral observation he exhibited several autistic features such as stereotyped conduct, avoiding gaze and echolalic language. Griffiths Scale of developmental assessment gave an ageequivalent score of 25 month, with lower scores in visuo-motor coordination, performances and social skills compared to expressive language skill. The sleep EEG did not show an adequate sleep organization for age; brain MRI revealed only an aspecific mild liquoral increase at the left temporal region. OFC 51 cm (75thcentile), weight 14 kg (50th centile), and height 105 cm (>90th centile). Minor facial anomalies: elongated face with a high prominent forehead, bitemporal narrowing, high-arched eyebrows with lateral thinning, slightly down-slanting deep set eyes, flat nasal bridge with broad nasal tip, large mouth with thick lips and everted lower lip, high-arched and narrow palate, deep palmar creases; slender trunk with widely spaced nipples; significant hyper mobility of the shoulders and hyper flexibility of the finger joints.

Birth weight: 2680 g (40. gestation week), second pregnancy, first pregnancy was ended by spontaneous abortion; familiar, prenatal and perinatal anamnesis negative. Clinical data: attention deficit, slight mental retardation (IQ: 69), long philtrum, clinodactyly of fifth finger, corpus callosum dysgenesis (MRI).

agenesis corpus callosi, deep set , malrotated ears, facial dysmorphism, psychomotor and developmental retardation

Hydrocephalus notes in ultrasound; birth at 37weeks of gestation; weight, length and OFC at 75. centile, several large hemangiomas at neck and back; forehead sloped and was asymmetric; supraorbital ridges hypoplastic; inner canthal distance at 95. centile; broad nasal root, midface prominent; short neck with excess of nuchal skin; hip rotation; tow nails hypoplastic; nipples placed asymmetrically

Primary amenorrhea at 16y; blind ending vagina; multicystic and enlarged ovaries; normal hormone status; mild mental retardation; facial asymmetry; long & low set ears; hypertelorism, upslanting palpebral fissures; unilateral ptosis; unilateral epicanthal fold, strabismus, bushy eyebrows, prominent nasal tip, long philtrum, prominent lower lip; high arched palate, scoliosis, bilateral hip dysplasia, longitudinal plantar creases; sacral hypoplasia, absent os coccyx; left side renal hypoplasia; enlarged right kidney; lenght >40. centile, weight >75. centile; glaucoma at age of 4 m; no developmental retardation.

Marker prenatally detected due to increased fetal nuchal translucency; at birth normal in growth parameters, but loose skin at the back of the neck and large ears. At 1y facial dysmorphism (antimongoloid palpebral fissures, maxillary hypoplasia, long philtrum, prominent lower lip, large dysplastic ears1), hyperextensibility of fingers, large toes. At 3 y loose skin at back of neck had decreased but slender trunk present plus hyperactivity and speech delay

developmental delay, dysmorphic features

Born at term; birth weight: 3500g, Apgar score 5/9; temporally intubations was necessary in the first 48h; developmental delay at age 6m; seizures from 13m; at 15m: head circumference 44cm (<5%), weight 8.7kg (75%), height 73cm (25%), diminished generalized muscle tonus; minor facial anomalies like small epicanthal fold, round face, flat nasal bridge

Mental retardation, accused myopia, deafness and flat feet, elongated face, bad implantation of teeth, big ears, deformity of chest and back, no kneecaps and a limitated elongation of arms and legs, long neck and very long fingers, always contracted in flexion.

autism, mental retardation

Learning disabilities; obesity; dysmorphic features

Ref 69: Birth at 34 weeks of gestation by cesarean after an uncomplicated pregnancy; weight 2.270 kg, length 45 cm, head circumference 32 cm. Apgar 9 at 10 min, 10 at 50 min). At 11 m, head circumference 44.5 cm (95th centile), weight 7.94 kg (10–25th centile), length 70 cm (25th centile); flat occiput and a right supernumerary nipple. The baby could babble. Early development normal, including head control at about 4 months and sitting at 8 months. She achieved independent walking at 20 months. Language development presented normal early language milestones; pointing was present late, at 18 months. She learned a few words around 2 years and was able to make poor sentences. At the age of 3 years, the Griffiths Scale of developmental assessment gave an age-equivalent score of 23 months, with lower scores in language, performance and social skills, and a General Quotient of 66. Behavioral observation showed a hyperactive profile, with attention deficit and poor concentration abilities.
Ref 70: Developmental delay; head control obtained at 4 months of age; sitting unsupported at 8 months of age; walked at 20 months of age; pointed at 18 months of age; had “a few words” at 2 years of age; at 3 years of age, the patient had a developmental assessment providing an age-equivalent score of 23 months; hyperactivity with attention deficit; supernumerary nipple; normal growth parameters; normal echocardiogram; normal abdominal ultrasound; normal ophthalmology exam.

Atypical autism diagnosed at age 5. Physically normal to somewhat late on most milestones. Walking with 20 months. He lost some cognitive skills around 2 years old. Before that he was more connected and interacted more with environment. He had some language but not appropriate for age -- and he stagnated cognitively between 2-5 with little language acquisition. He responded extremely well to his ABA program started at 5 and was able to attend regular school at age 7 with an aide. His IQ scores vary widely. HAWIK III at 8.2y - 71 K-ABC Intellectual possibilities at age 12.5 y K-ABC: result – 96; Vineland Adaptive Behavior Scales at 7 y 62. At 15 y physically normal -- full puberty.

Normal pregnancy and birth; 4400g at birth; abstructive sleep apnea; at 5y attention deficit disorder, seizures, developmental delay; OFC at 80. centile; forehead cowlick, upswept frontal hairline; nasal tip up-turned and slightly broad; thin upper lip; hyper mobility of small joints; 

at birth anaomalous pulmonary venus return noted; at 5y development of idiopathic thrombocystopenia; precocious puberty at 7y; obesity at 11y; bilateral epicanthal folds, eyes slightly deep set

global developmental delay

developmental delay

at 3 years developmentally retarded, mentally retarded, psychomotor deficiencies.

Born after uncomplicated pregnancy; weight 3579g (75th centile) after cesarean section due to breech position; Abgar 8/?/9; right kidney moderately hyponephrotic, anus anteriorly placed, contractures of the fingers, overlap of toes, hypoplastic or absent patellae. At age of 7m skeletal anomalies, developmental delay, simple ears, camptodactyly of 3. finger, HC and height at 90th centile; eversion of lower lip, deep plantar creases, ulnar deviation of fingers 3-5 bilaterally, malalignement of right foot; extra vertebrae, advanced bone age. At 2.5y normal motor development and normal receptive language skills but significant delay in expressive language. At 3y growth delay; 

developmental delay

n.a.

Born at term after a normal pregnancy, with birth weight 3000g, length 50cm. There was developmental delay. He has a severe mental retardation, and his behavior is autistic. At the age of 37 years, the phenotype is normal, not dysmorphic. He has a normal biometry. Neurological examination is normal. Fragile X screening : no expansion in the FMR1 region

developmental delay

mental retardation and behavioral problems at age of 2y. At 8y mild mental retardation, proportionate general build, no major malformations, mild lydysmorphic deep-set eyes & widely spaced teeth

mild intellectual delay but no dysmorphic features

developmental delay, normal birth with birth weight 6lb 10oz; at 3.5y: weight 25. centile, height 75. centile, OFC <5. centile. microcephaly with narrow forehead, mild epicanthal folds, hypoplastic alae nari, bulbous tip and soft ears mildly decreased muscular tone.

born in week 34 of gestation; eutroph at birth; micro anomalies; SMC detected already in amniocytes - amniocentesis due to advanced maternal age; more SMC in placenta and umbilical chord tissue than in umbilical chord blood

developmental delay and facial dysmorphism

psychomotor retardation; hydronephrosis, megauretra, craniofacial dysmorphism, hypertelorism, ear- abnormalities, finger and foot dysmorphism, develops café-au-lait spots

Born at term; birth weight: 3315g; length: 47cm. She could sit without support at 12±13 months, & walk without support at 3y of age. Some of the delay explained by pes equinovarus and repeated operations on her feet. No delay in fine motor skills. Hearing loss and intelligence had been estimated as 1y below normal. She had an accessory nipple and narrow shoulders, coarse face, hypertelorism, bulbous nose, low-set ears.

case no. 

gender

age at diagnosis

studied 
material

de novo/ 
inherited

GTG-banding result
grade of mosaicism

final FISH result of the sSMC

FISH
methods

UPD
result

clinical symptoms

reference

Father without any clinical signs; the frequency of the marker was 27% at age of 30y and 10% at age of 45y.
Both daughters had developmental delay, first daughter additionally with autistic behavior and preaxial polydactyly; Second daughter at birth with cardiac problems.

see below

growth retardation at 9y; normal psychomotor development; idiopathic non familiar short stature

monorchidism, cryptorchidism, mental retardation

9y

9y

globally delayed at age of 7y, broad nasal bridge, triangular face, large, posteriorly rotated low-set ears, divergent squint, clawing of tows2-5, hyper extensible elbows

see below

Born after an uneventful pregnancy; ultrasound at 5 months of gestation was normal; born by vaginal delivery and noted to have jaundice in the first week of life, which was thought to be due to breastfeeding. At 7.5m hypotonic, able to roll over but poor head control, could not sit without support. Her length, weight, and head circumference were all at the 25th centile for age; mild frontal prominence; ears low set with over folding at the superior helical regions; nose short and upturned. At age 2 y length at the 5th , weight slightly below the 5th , OFC at the 10th centile; speaking and putting words together; no health problems.

see below

Born by caesarian section after an uneventful term pregnancy. At age 6 m developmental delay and unusual appearance. Height, weight, and OFC were above the 95th centile for age; plagiocephaly with a prominence of left occiput and right forehead, epicanthic folds, highly arched palate, small nose and lingual frenulum tethering the tip of the tongue; right ear cup shaped, the left helixi over folded; hypotonic. CT showed agenesis of corpus callosum. At age 22 m, patient's growth was normal for age. walking at age 26 m.

Amniocentesis due to advanced maternal age; in a twin pregnancy; Twin's chromosomes normal; At birth patients weight and OFC at the 80th percentile, length at the 75% percentile; mildly dysmorphic features including 2 posterior hair whorls, abnormal palmar crease, slight epicanthal folds, mildly hypoplastic and widely spaced nipples; poor receptive language skills, autistic behavior, moderate mental retardation, severe speech delay, difficulty with fine and gross motor coordination.

see below

Amniocentesis after detection of right-sided chylothorax and ascites in ultrasound, child born at term with overlapping toes and talipes; at 3m developmental delay, poor head control, abnormal hand posture, abnormal feeding technique. No reaccumulation of the pleural effusion.

21y

see below

At age of 3 days poor suck and minor anomalies; born after a pregnancy complicated by preterm labor at 32 weeks of gestation; prenatal ultrasound study showed possible polyhydramnion. Delivery vaginally at 41 weeks of gestation with 3,799 g (90th centile); length 54 cm (95th centile), head circumference 34.5 cm (60th centile); multiple congenital anomalies like a small anterior fontanel, high sloping forehead, epicanthal folds, small palpebral fissures,  posterior hairline with excess nuchal skin, absent clitoris, and bilateral fifth finger, clinodactyly. 

12y

low birth weight, mental retardation, microcephaly, short stature, hypotonia, minor facial anomalies: hypotelorism, bilateral epicanthic folds, long philtrum, thin lips, narrow palate, micrognathia and low-set ears. Digital anomalies: bilateral brachyclinodactily of the fifth finger, cutaneous syndactyly between second and third fingers. 

prenatal

15y

neuromotor growth retardation, facial dysmorphism, height 157cm (10th centile), weight 37,5kg (<3rd centile), OFC 55cm (75th centile), pterygium colli, poor speech and language development, IQ 67

prenatal

case no. 

gender

age at diagnosis

studied 
material

de novo/ 
inherited

GTG-banding result and FISH result incl. grade of mosaicism

FISH
methods

UPD
result

clinical symptoms

reference

case no. 

gender

age at diagnosis

studied 
material

de novo/ 
inherited

GTG-banding result
grade of mosaicism

final FISH result of the sSMC

FISH
methods

UPD
result

clinical symptoms

reference

multiple clinical abnormalities: small head, divergent squint, low-set posteriorly rotated ears, broad nasal bridge, epicantic folds, anteriorly placed anus

amniocentesis due to advanced maternal age; no clinical details available

CVS due to advanced maternal age; no ultrasound abnormalities; termination of pregnancy, no autopsy

Born at term; birth weight: 2,900 g, birth length 48 cm. At 10y learning difficulties and severe speech delay. Motor development was normal, speech development delayed and began at age 6 y. At the age of gynecomastia (Tanner stage 2), mild eunuchoid overgrowth (165 cm, height of the mother was 175 cm and of the father was 175 cm), mild obesity (68.5 kg), and normal head circumference; mild facial anomalies including long face, lateral hypoplasia of eyebrows, almond shaped eyes, epicanthic folds, broad bulbous nose, thin upper lip, down-turned corners of the mouth, small teeth, narrow palate, and large ears with mildly dysplastic pinnae and thickened helix. Fingers and toes slender, body hair decreased. Computed tomography of brain normal. At age of 13 y poor language, speech, and writing skills, including ungrammatical speech, articulation dyspraxia, and a vocabulary below age-appropriate standards. Nonverbal abilities and memory normal.

Intrauterine and postnatal growth retardation, at 6y microcephaly, brachycephaly, hypotonia, psychomotor retardation, partial agenesis of corpus callosum abnormal dermatoglyphic patterns and facial dysmorphism (slant up palpebral fissures, anteverted nares, relatively large ears, prominent lower lip, long philtrum)

Advanced maternal age; positive maternal marker serum screen; TOP

mar2 = min(8)(:p11.21→q11.1:)

psychomotoric delay, dysmorphic features like macrocephaly, agenesis of corpus callosum, high and prominent forehead, hypertelorism, dysplastic ears, cleft palate, uvula bifida, zygodactyly of 2. and 3. toesand hearing impairment

case no. 

gender

age at diagnosis

studied 
material

de novo/ 
inherited

GTG-banding result
grade of mosaicism

final FISH result of the sSMC

FISH
methods

UPD
result

clinical symptoms

reference

16y

Patient born after a 32-week pregnancy and uncomplicated vaginal delivery. The mother reportedly drank six to seven quarts of beer per day for two to three years and throughout the pregnancy and smoked one to two packs of cigarettes per day. She also had a psychiatric history, including treatment with trifluoperazine and chlorpromazine. Birth weight 1510 g, Apgar 7/8/-. Gavage feeding was needed for poor suck. At 20 days weight 1720 g, length 43 cm, OFC 29 cm (all <5th centile), increased hair on the forehead, camptodactyly of 5th fingers, rocker bottom feet, hypertonia with tight fisting of hands & limited extension of the elbows, knees, and hips. Weight and height were below the 5th centile throughout development. At 2-3/12 y small skull. Developmental delayed. Psychological testing at 5 y full-scale IQ score of 45 (verbal 52; performance 40; Wechsler Preschool and Primary Scale of Intelligence); moderate mental retardation; difficult to control, aggressive, and having an attention deficit at age 12-11/12. At15-5/12 y mild prominence of the ventricles; persistent spasticity in the lower limbs, with tight hamstring muscles and heel cords. Facial hirsutism at 13 y with onset of puberty; MRI at 15-2/12 y showed elongated ovaries containing multiple cysts dispersed throughout; at 15-1/12 y drooping eyelids, double vision, bumping into objects, some difficulty swallowing; Examination in the Genetics Clinic at age 15-9/12 showed: weight 41.4 kg (<5th centile; 50th centile for 12 years), height 131 cm (<5th centile; 50th centile for 7-1/2 years), OFC 56 cm (75th centile), inner canthal distance 3.2 cm (75–97th centile), ears 4.7 cm (<3rd centile; 50th centile for 9 months), hands 14.5–15 cm (<3rd centile; 50th centile for 9 years), palms 9 cm (3rd centile), and feet 19.5–20 cm (<3rd centile; 50th centile for 8 years). Facial hair was increased. There were contractures of the second, third, fourth, and fifth digits of mainly the right hand. At 16 y, persistent ptosis

prenatal

Detected prenatally due to advanced maternal age; as ultrasound was normal pregnancy was continued; at 2y2m boy was physically and developmentally normal

30y

mild mental retardation and inappropriate sexual behavior, mild dysmorphism with long face and high arched palate, developmentally delayed.

2y

pregnancy uneventful, delivery premature due to rupture of embryonic membrane; birth weight 2035g; 2w after birth heart murmur due to patent ductus arteriousus with pulmonary hypertension; At 2.25y weight 11.72kg, HC 50.2cm, length 86cm; broad forehead, developmental delay

8y

Referred at 8 y for developmental delay with no obvious dysmorphic features. Observed to be good at sports but no other information regarding the patient could be obtained.

23y

feminine stature, small testes, recurrent bone fractures, kyphiosis, recurrent myocarditis, mentally normal

n.a.

11y

first referred at 2 months of age for failure to thrive, no palpable testis, bilateral inguinal hernia; born at term by emergency caesarean section after arrested breech; heart murmur at birth - later found to be patent ductus arteriosis; microphallus, bilateral undescended testes, bilateral inguinal hernia, recurrent bronchiolitis, milk allergy and asthma. At age 2 years and 6 months height below 3rd centile; weight between 3rd and 10th centile. At age 9 Attention Deficit Hyperactivity Disorder; below average intellectual ability. At 13y, short stature (below 3rd centile), delayed puberty, continued behavioral problems, IQ of 75.

n.a.

postnatal

prenatal

Amniocentesis due to advanced maternal age. Patient born at week 41 after normal pregnancy; Birth weight: 3410g, Apgar 9/10; no dysmorphism seen at birth. At 8m minor epicanthal fold on the left side and hemangioma on right temple. No developmental delay

n.a.

case no. 

gender

age at diagnosis

studied 
material

de novo/ 
inherited

GTG-banding result
grade of mosaicism

final FISH result

FISH
methods

UPD
result

clinical symptoms

reference