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Table 2 Phenotypes of patients with disease-causing CNVs

From: Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort

Patient

Sex

Syndrome/disorder

Detailed phenotype

SEG2_5

F

16p13.3 microdeletion (OMIM#610,543)

Microcephaly, small forehead, retrognathia, hypotelorism, narrow and depressed nasal bridge, low-set ears, abnormality of the pinna, high palate, enlarged thorax, pectus excavatum, pollex duplex, broad thumbs with radial deviation, broad 1st toes, low anterior hairline, decreased fetal movement, congenital glaucoma, atrial SD, moderate left ventricular hypertrophy, PS, laryngospasm

SEG2_7

M

22q11.2 microduplication [OMIM#608,363, (48)]

Premature birth, complicated perinatal adaptation, neonatal hypoglycaemia, bark-like cry, maternal alcohol consumption during pregnancy possible, somatic DD, ID/DD, microcephaly, small forehead, unilateral narrow palpebral fissure and microphthalmia, hypoplastic philtrum, high palate, unilateral clinodactyly of the 5th finger, unilateral STPC, pectus excavatum, rectus diastasis, dystrophic toenails, MuHy, brain MRI: CCH, hypoplastic hippocampus, PDA and atrial SD, inguinal hernia, hypospadias

SEG2_12

M

22q13 microduplication (OMIM#615,538)

Global DD/ID, severe speech DD, relative macrocepahly, broad face and forehead, hypertelorism, high palate, widely spaced teeth, JH, cutis laxa, imbalance, autistic features

SEG2_15

M

19p13.3 microduplication (ORPHA:447,980)

Somatic DD, feeding difficulties, global DD/ID, microcephaly, micro- and retrognathia, low-set, prominent and simple ears, hypoplastic philtrum, narrow mouth, rib anomaly, pectus excavatum, JH, coarse hair, low anterior hairline, brain MRI: mild cerebral atrophy, generalized MuHy, unilateral coloboma, stenosis of the nasolacrimal duct, bilateral sensorineural hearing impairment (familial), duodenal atresia, cholestasis, splenomegaly, impaired liver function, bicuspid aortic valve, cryptorchidism, hypospadias, hypocortisolism

SEG2_17

M

16p11.2 microduplication (OMIM#614,671)

Global DD, severe speech DD, developmental regression, facial asymmetry, prominent forehead, epicanthus, wide and depressed nasal bridge, low-set and prominent ears, high palate, clinodactyly of 3rd -5th toes, brain CT: cerebral atrophy, ventriculomegaly, generalized MuHy, autistic features, poor attention, temper tantrums, abnormal eating behavior, strabismus, cryptorchidism

SEG2_21

F

18q22.1q23 microdeletion (OMIM#601,808)

SGA, feeding difficulties, global DD, relative macrocepahly, broad forehead, micrognathia, epicanthus, depressed nasal bridge, overlapping toes, high anterior hairline, brain MRI: ventriculomegaly, delayed myelinization, nystagmus, MuHy, lower limb muscular hypotrophy, reduced tendon reflexes, atrial SD

SEG2_26

M

16p11.2 microduplication (OMIM#614,671)

Global DD/ID, prominent forehead, micrognathia, down-slanted palebral fissures, hypertelorism, absent medial eyebrows, low-set and prominent ears, downturned corners of the mouth, epilepsy, ASD, poor attention, strabismus, caries

SEG2_27

M

16p11.2 microduplication (OMIM#614,671)

Global DD/ID, prominent forehead, down-slanted palebral fissures, hypertelorism, absent medial eyebrows, low-set and prominent ears, downturned corners of the mouth, JH, generalized MuHy, ASD

SEG2_30

F

17p13.3 microdeletion syndrome (42,43)

Prematurity, somatic DD, global DD/ID, large fontanels, delayed closure of fontanels, triangular face, high, broad and prominent forehead, microphthalmia, wide and depressed nasal bridge, low-set ears, thin upper lip vermillion, downturned corners of the mouth, short philtrum, high palate, pectus excavatum, small hands, brachydactyly, TPC, low posterior hairline, brain MRI: CCH, ventriculomegaly, aqueduct stenosis, arachnoid cysts, hydrocephalus, tethered cord, strabismus, delayed eruption of teeth, delayed bone age, atrial SD, anteriorly placed anus

SEG2_32

F

16p12.2 microduplication (39)

Global DD/ID, speech regression, epicanthus, sparse eyebrows and eyelashes, short neck, JH, low posterior hairline, brain MRI: abnormal myelinization, generalized MuHy and muscular hypotrophy, ataxia, dyssynergia, stereotypies, bruxism, strabismus

SEG2_33

F

Angelman syndrome (OMIM#105,830)

Global DD/ID, microcephaly, trigonocephaly, prominent forehead, prognathia, epicanthus, depressed nasal bridge, thin upper lip vermillion, high palate, short neck, shield chest, TPC, brain MRI: syringomyelia, Arnold-Chiari type I malformation, encephalopathy, epilepsy, generalized MuHy, ataxia, dyssynergia, incoordination, tongue thrusting, stereotypies, sleeping disrder, abnormal social behavior, strabismus, CALM, excessive sweating and salivation

SEG2_37

M

16q22.2q23.3 microdeletion [OMIM#614,541, (41)]

Somatic DD, global DD, large anterior fontanel, relative macrocepahly, triangular face, high, broad and prominent forehead, micrognathia, wide nasal bridge, low-set and crumpled ears, high palate, JH, TPC, brain MRI: mild ventriculomegaly, focal hyperintensities in frontal lobe, sleeping disrder, delayed eruption of teeth, 4 CALMs

SEG2_39

M

Proximal 16p11.2 microdeletion (OMIM#611,913)

Early obesity, global DD/ID, brachydactyly, stereotypies, abnormal emotion/affect behavior, poor attention, abnormal eating behavior, encopresis, impaired ability to form peer relationships, unilateral renal agenesis

SEG2_44

M

2q23.1 microduplication (49)

Pre- and postnatal overgrowth, global DD/ID, articulation disorder, relatively large facial skeleton, facial asymmetry, micro- and retrognathia, epicanthus, depressed nasal bridge, macrotia, abnormality of the pinna, linear earlobe crease, thick lower lip vermillion, hypoplastic philtrum, high palate, flat occiput, hypermobility of finger joints, stiffness of other joints, deep palmar and plantar creases, long toes, sandal gap, high anterior hairline, down-sloping shoulders, generalized MuHy, good memory, autistic features, umbilical hernia, increased bone age, scoliosis, gynecomastia, naevus flammeus

SEG2_49

M

14q11.2 microdeletion (20)

ID/DD, microcephaly, micrognathia, nasolacrimal duct stenosis, deep set eyes, depressed nasal bridge, bulbous nose, abnormality of the pinna, open mouth, unilateral STPC, brachydactyly, bilateral cutaneous syndactyly, bilateral cutaneous syndactyly of the 3rd -4th toes, scoliosis, flexion contractures of the fingers, axial hypotonia, limb hypertonia, incoordination, broad-based gait, cranial US: ventriculomegaly, hearing impairment, strabismus, delayed eruption of teeth

SEG2_50

F

8p23.1 microdeletion (ORPHA: 251,071)

Global DD, broad and prominent forehead, micro- and retrognathia, hypertelorism, depressed nasal bridge, low-set ears, high palate, pectus excavatum, kyphosis and lumbar hyperlordosis, congenital hip dislocation, broad 1st toe, JH, axial MuHy, normal brain MRI, reduced tendon reflexes, poor attention, strabismus, myopia, delayed eruption of teeth, capillary hemagioma, sacral dimple, atrial SD

SEG2_52

F

1p36 microdeletion [OMIM#607,872, (44)]

Feeding difficulties, global DD, large anterior fontanel, broad forehead, hypertelorism, low-set and simple ears, high palate, thin lip vermillions, short and hypoplastic philtrum, dorsalflexion pf the feet, bilateral TPC, overlapping toes, clinodactyly of the toes, low anterior hairline, hirsutism, brain MRI: ventriculomegaly, frontotemporal polymicrogyria, CCH, hypoplasia of brainstem and white matter, generalized MuHy, epilepsy, Fallot tetralogy

SEG2_53

F

Distal 16p11.2 microdeletion (OMIM#613,444)

Pre- and postnatal overgrowth, early obesity, global DD, genu varum, small hands and feet, generalized MuHy, polyphagia, abnormal social behavior, strabismus

SEG2_59

F

17p11.2 microdeletion (Smith-Magenis syndrome, OMIM#182,290)

Global DD, speech regression, triangular face, broad and high forehead, wide nasal bridge, open mouth, genu valgum, calcaneus valgus, broad 2nd fingers, clinodactyly of the 4th toes, brain MRI: arachnoid cysts hemosiderin deposits, broad-based gait, ataxia, epileptiform EEG, stereotypies, tongue thrusting, self-biting, aggression, abnormal eating behavior, assisted reproduction, healthy twin, strabismus, 1 CALM, naevus flammeus, excessive salivation, atrial SD, spleen cysts, GERD

SEG2_61

M

Léri-Weill dyschondrosteosis (OMIM#127,300), idiopathic short stature (OMIM#300,582)

Somatic DD, short limbs, global DD, wide and depressed nasal bridge, low-set and prominent ears, thin lip vermillions, short neck, flat occiput, small hands and feet, brachydactyly, brain MRI: ventricular asymmetry, generalized MuHy, tongue thrusting, impaired pain sensation, congenital stridor, scoliosis, tongue haemangioma, hepatomegaly, lymphangioma

SEG2_62

M

X-linked ichtyosis (OMIM#308,100) and Temple syndrome (UPD14mat, OMIM#616,222)

Somatic DD, global DD, relative macrocepahly, high and prominent forehead, low-set ears, high palate, clinodactyly of the 5th finger, TPC, brain MRI: partial empty sella, thin pituitay gland stalk, myopathic signs on EMG, decreased fetal movement, generalized MuHy, delayed bone age, micropenis, unilateral retractile testis, growth hormone deficiency, hypoglycaemia, generalized dry skin, discrete white scaling of the skin on extensor surfaces, ichthyotic skin on ears and scalp

SEG2_68

F

14q11.2 microdeletion (20)

Parents: first cousins, ID/DD, somatic DD, short stature, turricephaly, long face, thick eyebrows, abnormality of the pinna, hypodontia, long and slender fingers, absent speech, inability to walk, spasticity, muscular hypotrophia, epilepsy, brain MRI: cerebral atrophy, talipes equinovarus, hirsutism, hypothyroidism

SEG2_70

M

4q32.2q35.2 deletion (51)

Feeding difficulties, somatic DD, global DD, micro- and retrognathia, wide and depressed nasal bridge, low-set ears, preauricular skin tag, bilateral TPC, camptodactyly of 2nd -5th fingers, absent 5th distal phalngeal bones, overlapping toes, camptodactyly of 4th toes, brain MRI: choroid cysts, generalized MuHy, weak cry, cleft palate, glossoptosis, osteoarthritis (shoulder region), haemangioma, cardiomegaly, tracheal stenosis, hypospadias, double meatus urethrae, unilateral retractile testis, contralateral cryptorchidism, unilateral severe hydronephrosis, nephrolithiasis

SEG2_78

F

Xq22 microdeletion (50)

Prematurity, polyhidramnios, small fontanels, complicated perinatal adaptation, breathing difficulties in infancy, microcephaly, turricephaly, bitemporal narrowing, micrognathia, upslanted and short palpebral fissures, hypotelorism, depressed nasal bridge, abnormality of the pinna, high palate, webbed neck, low anterior and posterior hairlines, wide intermammillary distance, cutis laxa, stiff joints, ulnar deviation of the hands, overlapping fingers and toes, unilateral STPC, clinodactyly of the 5th fingers, camptodactyly of toes, sandal gap, flexion contractures of the fingers, dorsalflexed feet, hypoplasia of the nails, global DD, MuHy, poor visual behavior, reduced tendon reflexes, brain MRI: ventriculomegaly, cerebral atrophy, CCH, atrial SD, PS, absent right superior vena cava, persistent left superior vena cava, double aortic arch, GERD

SEG2_80

M

22q11.21q11.22 microdeletion (47)

SGA, prematurity, somatic DD, articulation disorder, microcephaly, long face, micrognathia, epicanthus, prominent nasal bridge, simple ears, high palate, crowded teeth, thin upper lip vermillion, brachydactyly, enuresis nocturna, umbilical hernia, mild conductive hearing impairment, submucous cleft palate, ankyloglossia, delayed bone age, dry skin, atrial SD, recurrent infections

SEG2_82

F

Phelan-McDermid syndrome (OMIM#606,232) and 19q13.43 microduplication (45,46)

Global DD, high palate, widely spaced teeth, conical teeth, broad thumbs and 1st toes, JH, normal brain MRI, generalized MuHy, ataxia, frequent falls, poor eye contact, hyperorality, MI, PI, recurrent infections

SEG2_85

F

16q12.2q21 microdeletion (40)

SGA, short stature, obesity, global DD/ID, narrow forehead, low-set ears, open mouth, macroglossia, high palate, brachydactyly, normal brain MRI, epilepsy, coarctation of the aorta, HCMP

SEG2_87

F

17q12 microduplication (OMIM#614,526)

Mild DD, high forehead, depressed nasal bridge, hypertelorism, low-set ears, atrial SD

SEG2_89

M

14q11.2 microdeletion (20)

Perinatal hypoxia, polyhidramnios, complicated perinatal adaptation, ID/DD, somatic DD, short forehead, deep-set eyes, synophris, short and hypoplastic philtrum, high palate, broad 1st finger, brachydactyly tapered fingers, unilateral STPC, broad hallux, overlapping toes, cutis laxa, Trendelenburg sign, tremor of the tongue, brain MRI: ventriculomegaly, tongue thrusting, umbilical hernia, refraction error, lumbar hyperlordosis, vertebral anomalies, hip dysplasia, hypertrichosis, bilateral pyelectasis, cryptorchidism, GERD

  1. y: years; m: months; d: days; OMIM: Online Inheritance in Man;
  2. ASD: autism spectrum disorder; CALM: café au lait macule; CCH: corpus callosum hypoplasia; DD: developmental delay; EMG: electromyogram; GERD: gastroesophageal reflux; HCMP: hypertrophic cardiomyopathy; ID: intellectual disability; JH: joint hypermobility; MI: mitral valve insufficiency; MRI: magnetic resonance imaging; MuHy: muscular hypotonia; PDA: patent ductus arteriosus; PI: pulmonary valve insufficiency; PS: pulmonary valve stenosis; SD: septal defect; SGA: small for gestational age; TPC: transverse palmar crease