At age of 5y height 44.25 inchers (90th centile), weight 25.5 kg (50th centile), HC 54cm (35th centile). severe dysmorphic features like flat face, prominent nose, long philtrum, low-set, posteriorly rotated ears, sub mucous cleft, retrognathia, speech delay.

uneventful pregancy and delivery, walking at age of 30 months, speech at 3 years; global developmental retardation; some autistic features, broad philtrum, clinodactyly

delayed development, seizure disorder, microcephaly, dysmorphic features

Amniocentesis due to abnormal triple test results; hygroma colli detected in ultrasound; pregnancy terminated.

singular umbilical cord artery, complex heart defect and microcephalus detected in ultrasound; fetus spontaneously aborted

Family history of  NF1; at age of 6 years. At age 12 1/2: height 121 cm (- 6 s.d.), weight 24.5 kg (- 4 s.d.), head circumference 50 cm ( - 2 s.d.). Inner canthal distance 2.6 cm (10th centile) outer canthal distance 7.1 cm (3rd centile); blood pressure 100/68 mm Hg, no heart murmur; single transverse palmar crease on the left and normal crease on the right; short 5th fingers; genitalia + breasts at Tanner stage I, extensive freckling on the body and on the back of her hands + bilateral axillary freckling; >5 cafè-au-lait spots; mild speech impediment 

marked delay in speech, slight motor delay; dysmorphic signs like medial flare eyebrows, synorphs, long eyelashes, full cheek, hyperconvex finger nails, clinodactyly of Vth finger, large space between 1. and 2. toe, deep plantar creases, prominent calcaneous

Born at 40 wk gestation after a pregnancy complicated by hypertension. Birth weight 3,650 g, length 54 cm, head circumference 37 cm. Apgar index 7/8/9, pH of umbilical arterial blood 7.31. Child hypotonic, developed difficulties in breathing, followed by a transient cyanosis. Child presented a variety of craniofacial dysmorphic features: frontal bossing; severe hypoplasia of the middle face with a broad nasal bridge; a down-turned mouth with thin lips; large, dysplastic ears; an atypical furrow of the fourth left finger; premature synostosis of the sagittal and basal parts of the coronary sutures; Postnatal sonography revealed an atrial septum defect, a persistent ductus arteriousus botallo, and hypoplasia of the left kidney. Neurologically,  nystagmus in combination with divergent strabismus was noted. At the age of 5 y considerable motor difficulties, especially in regard to motor coordination; however, verbal abilities were nearly in accordance with age.

r2 =
r(16)(::p11.1→q11.2::)* 

Twins born in week 25/26: weight 632-672g; Apgar scores 5/7; no dysmorphic features after birth detected; both with grade II intraventricular hemorrhage and stage III, zone III retinopathy of prematurety.
Twin A at 23m: microcephaly, growth and developmental delay, hypertelorism, flat nasal bridge, epicantic folds ;strawberry hemangiomas; HC = 45cm (<2centile), able to walk, specking 2 words. 
Twin B at 23m: microcephaly, growth delay; bifid right thumb and left inguinal hernia; HC 43.5cm (4SD below mean); prominent metopic suture. Able to walk, and babble. 

multiple congenital abnormalities; at birth he had a truncus arteriousus type I; atrial and ventricular septal defects, A-V canal, sepsis, pyloric stenosis, seizures resulting from front-parieto-temporal intracranial hemorrhage; at 11m he sat, crawled, walked, smiled, babbled and developmentally normal; at 20m weight at 70-90th percentile, OFC at 2. percentile, internal strabismus, malformation of T-12 vertebrae, levo scoliosis, microphallus

mother: developmental delay and heart murmur, bilateral postaxial polydactyly, neonatal rectal fissure, umbilical hernia, minor cerebral palsy, learning disabilities, low normal intelligence
daughter:  (father normal chromosomes); at birth 1648g, born in week 31, 43cm long, with large head (OFC 33cm) with extended occiput, small ears and mouth, froglike positioning of legs, bilateral simian crease, duodenal atresia, an annular pancreas, patent ductus arteriousus, arterial septal defect; at 9days she developed a grade 4 intraventricular hemorrageand died at day 12.

advanced maternal age, previous pregnancy with hydrops fetalis and 45,X; this pregnancy was carried on and a normal female baby was born, (weight: 3500g, length 36cm, OFC 36cm, APGAR 9/10/10. Now at 8y acc. to mother no abnormalities, only growth delay; no mental problems.

born at term in week 40; length 51 cm, weight 3580g, OFC 35cm; small fontanels and epicanthus on both sides but normal after birth; OFC developed along 3rd centile; adiposities; developmental retardation; At 6 y, adiposities, telecanthus, epicanthus and other minor dysmorphism. mental and developmental retarded. As young adult woman living independently and normal life with profession in health care system.

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.

r(8)(:p12→q11.1:
:q11.1→p21.1:),
min(8)(:p11.22→q11.21:
:q11.21→p21.1::p21.1→
p11.22:) [70%],
min(21)(:p11.1→q21.3:) [30%]
chr 8: 28.63-48.74 MB
chr 21: 13.30-28.90 MB

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)

Abnormal ultrasound findings; duodenal atresia, polyhydramnions stillbirth

Patient mildly mentally impaired and that her husband is likewise. She was a slow developer as a child, and her parents thought she may have had mild cerebral palsy. However she is a completely functioning adult - was working in an office job, looking after a household, and a very conscientious mother.  She is slightly dysmorphic - has a slightly coarse face with a prominent lower jaw. sSMC 7 is present in 11/100 buccal mucosa cells

At birth: 2,994 g; as baby:  hypotonia and micrognathia. Sitting at 9m, crawling at 1y, walking at 18m; at 6y IQ 40; at 8y developmental delay, verbal and oral apraxia, oropharyngeal dysphasia, uses an augmentative communication device at school and has a 10-word vocabulary. Hearing evaluations have been normal. Autism, significant inattention and hyperactivity. Also had a single febrile seizure and EEG abnormalities and ophthalmologic abnormalities including hypermetropia, esotropia, and astigmatism. Normal anthropomorphic measurements. Also present mild dysmorphic features including a prominent forehead and a high arched palate. Three hair whorls were present. Chest exam revealed a mild pectus excavatum. There was mild fifth finger clinodactyly bilaterally and hyperextensibility of the digits. An MRI of the brain showed mild inferior cerebellar vermian hypoplasia and mild thinning of the corpus callosum. A sleep study was normal with the exception of an abnormal EEG showing prominent spike and wave activity.

Autopsy result: female fetus, induced abortion at gestational week 22, length 28 cm. Facial dysmorphism, wide nose bridge, macroglossia, low-set ears. Body and limbs with no external abnormalities, no pathological findings (macro- and microscopically) on brain, lungs, kidneys, adrenal gland, gallbladder, external and internal female genitalia, morphology corresponding with the gestational age.

Child born at term; child appeared hypotonic with hypertelorism, micrognathia and full neck. Developmental milestones were reached at appropriate age at 35m , 3y and 4y. Exception: gross motor delay caused by excessive joint laxity. At 4y slim build and slightly long face with epicantic folds.

51,XY,+mar1-3,+mar5-6[1]/50,XY,+mar1-4[1]/50,XY,+mar2-3,+mar5-6[1]/49,XY,+mar1-3[19]/49,XY,+mar2-4[1]/
49,XY,+mar2-3,+mar5[1]/48,XY,+mar1-2[5]/48,XY,+mar2-3[9]/47,XY,+mar1[1]/47,XY,+mar2[4]/47,XY,+mar3[2]/46,XY[5]

prenatal: bilateral cleft lip anomaly, ventriculomegaly, and possible agenesis of the corpus callosum. At birth, bilateral cleft lip anomaly, flattened nasal profile (nasomaxillary hypoplasia), upslanting palpebral fissures. MRI of brain showed fusion of the frontal lobes and thalami, partial agenesis of the corpus callosum, consistent with a semilobar holoprosencephaly. Echocardiogram: normal intracardiac structure with patent ductus arteriousus 

born after 39 gestational weeks by caesarean section because of macrosomy showing a weight of 4,250 gr (p> ), and an Apgar of 3, needing intensive reanimation. With 5 hours of life he suffered apnea for two minutes, as well as hypoglucemia and hypocalcemia that were treated having good respond and never happened again. Clinical examination showed bilateral cryptorchidism. During pregnancy the only relevant fact to be consider was that the mother was treated with Diazepam in late pregnancy. When the child was 19 months old, his weight and length were 2DS below normality. The child in his evolution showed psychomotor delay, starting deambulation when he was 22 months old, and a bilateral convergent strabismus. When he was 10 years old, the testes were surgery descended. And at 13 years old, the strabismus was also corrected. At school he was always having slight learning difficulties, with normal social behaviour. Later on, he never study, becoming a painter. When he was 22 years old, with no facial dysmorphism, was remitted to a Genetic Laboratory (“unknown laboratory”) showing a weight of 89 kg (p<), a length of 165 cm (p<) and a Corporal index mass of 32.7. He had hypogenitalism, with a short thick penis (6cm), and testes with 8 and 10 cc. He has multiples hyperpigmented nevi all over his body (Fig. ) showing no sign of malignancy after biopsy. He also has a left vesicoureteral reflux grade III, with a normal renal function. The cardiologic, audition and fundus of the eye examinations were normal. Blood biochemistry was normal.

r(1)(::p11.1→q21.1:)[12]/r(1)(::q21.1→p11.1::p11.1→q21.1::)[5]/min(1)(:p11.1→q21.1:)[2]/
der(1)(:q21.1→p11.1::p11.1→q21.1:)[1] present in ~34%
?r(2)
der(5)(:p11→q11.1::q11.1→p11:) or der(5)(:q11→p11::q11.1→p11:) or der(5)(:p11→q11.1::p11→q11.1:) 
present in ~62%
min(6)(:p11.1→q11.1:)[7]/ min(6)(:p11.2→q11.1:)[3]/der(6)(:p11→q11.1::q11.1→p11.1:) or der(6)(:q11→p11.1::q11.1→p11.1:) or der(6)(:p11→q11.1::p11.1→q11.1:)[1] present in ~51%
min(12)(:p11.1→q11:)[15]/der(12)(:p11.1→q11::q11→p11.1:) or der(12)(:q11→p11.1::q11→p11.1:) or der(12)(:p11.1→q11::p11.1→q11:)[6]present in ~15%
inv dup(14)(q11.1) present in ~15%

mar(3)(:p12.3→q13.13:)[58%] array-CGH: RP11-59E22 to RP11-71D1; mar(12)(:p11.22→q12:)[100%] array-CGH: RP11-780A5 to RP11-490D11; mar(13 or 21); mar(22) [18%]; mar(X) [18%]; 6th DAPI positive marker not identified [2%]

detected prenatally due to suggested bladder outlet obstruction in ultrasound; child born in 36. week with 3190g, 52cm, OFC 35.3cm; Apgar 9/10/10; mild macrocephaly, unilateral hydronephrosis, at 4m (psychomotor) development normal,  

Amniocytes: mar(1/5/19),mar(6),mar(9)[27]/mar(1/5/19),mar(6),mar(9),mar(13/21)[23]/
mar(1/5/19),mar(6),mar(9)x2,mar(13/21)[34]/mar(1/5/19),mar(2),mar(4),mar(6),mar(9),mar(13/21)[11]/
mar(1/5/19),mar(2),mar(4),mar(6),mar(9),mar(10),mar(13/21)[5]
Chord blood: mar(1/5/19),mar(6),mar(9)[47]/mar(1/5/19),mar(6),mar(9),mar(13/21)[33]/mar(1/5/19),
mar(6),mar(9),mar(13/21)[20]