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Table 1 Goup I, abnormal CNVs overlapping known microdeletion or microduplication syndromes and/or known pathogenic genes

From: Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients

Patient

Sex

Locus

Type of CNV

Clinical features

Region’s minimal size (Kb)

Minimal breakpoints (bp)

Estimated coefficient of inbreeding (F)

Location of the imbalance

Inheritance

P1

M

1p36.33p36.22

Loss

ID, DD, Cardiac malformations, bilateral inguinal hernias, omphalocele, hearing loss, hypotrophic, triangular face, cleft lip and palate, agenesis of the corpus callosum

6,750

130,110- 136,860,002

0

Terminal

De novo

P2

F

1q44

Loss

ID, DD, clonus before the age of 8 months, microcephaly, growth retardation, short neck, low set ears, round face, a prominent and broad forehead, frontal bossing, small bulbous nose, anteverted nostril, deep set root, accentuated central depression lower lip, pointed chin, convergent strabismus, and midface hypoplasia , prominent supraorbital ridges, deep set eyes, dark infraorbital circles

4,293

242,895,230-247,189,052

0

Terminal

De novo

6p22.3

Loss

20

15,569,409-15,589,866

 

Interstitial

De novo

P3

M

2q22.3q23.1

Loss

ID, DD, language impairment, scaphocephaly, microcephaly, autistic features, melanotic spot on belly and thighs, enophthalmia, undescended left testis, aggression

3,836

145,103,064- 148,939,789

0

Interstitial

De novo

P4

M

4p16.2p15.33

Loss

DD, strabismus, amblyopia, right thumb brachydactyly, missing lateral incisors

4,700

5,406,881- 10,107,795

0

Interstitial

De novo

P5

F

6q16.1q16.3

Loss

DD, ID, obesity, macrocephaly, strabismus, kyphosis, hyperactive, tapered fingers, genu valgum, short feet

9,622

95,014,210- 104,636,586

0

Interstitial

De novo

P6

M

8q24.23q24.3

Gain

DD, hypotonia, hernia diafragmatica

9,726

136,543,915- 146,270,808

1/32

Terminal

De novo

P7

F

9p24.3p22.3

Loss

ID, trigonocephaly, agenesis of the corpus callosum, polymicrogyria, blepharophimosis, facial dysmorphism

14,694

42,900- 14,737,134

0

Interstitial

De novo

P8

M

10q26.11q26.13

Loss

DD, microcephaly, language impairment, undescended right testis, micropenis, facial dysmorphism, exophthalmos, broad nasal bridge, large ears, short and flat forehead, straight eyebrows

4,570

119,502,107- 124,072,142

0

Interstitial

De novo

P9

F

12p12.1

Loss

ID, scaphocephaly, strabismus, camptodactyly, polymicrogyria, frontal bossing

4,260

23,572,642- 23,576,902

0

Interstitial

De novo

P10 [12]

F

12q24.23q24.31

Loss

DD, retrognathism, constipation, obesity, epilepsy, flat face, Café au lait spots

980

119,633,574- 120,613,673

0

Interstitial

Paternal inheritance

P11

F

14q24.3q32.2

Loss

Metatarsus adductus, enophthalmia, microretrognatism, hypotonia

23,028

75,432,536- 98,460,571

0

Interstitial

De novo

P12

F

15q11.2q13.1

Loss

DD, axial hypotonia, ataxia, abnormal white matter signal

5,038

21,170,573-26,208,862

0

Interstitial

De novo

P13

F

16p13.3

Gain

ID, short stature, renal artery stenosis, malformation of thumbs, club foot

1,558

3,057,380-4,616,365

0

Terminal

De novo

P14

M

16q11.2q21

Gain

Ptosis, cardiac malformation, psychomotor retardation, ID

17,756

45,027,595-62,783,676

0

Interstitial

De novo

P15

M

t(1;16)(q25.3;q22.3)

Loss 16q22.3

ID,DD, cerebral lesion sequelae, cleft palate

2,262

70,288,663-72,551,141

0

Interstitial

De novo

P16

M

22q13.2q13.33

Loss

DD, ID, hyperelastic skin of the abdomen, ligamentous laxity, pachyonychia

7,896

41,678,984-49,575,139

0

Terminal

De novo

P17

M

t(15;19)(q26.3;p13.3)

Loss 15q26.3

ID

992

99,225,025-100,217,472

0

Terminal

De novo

Gain 19p13.3

3,124

196,466-3,321,442

 

Terminal

 

P18

M

Xq28

Gain

ID

249

153,211,216-153,461,068

0

Terminal

De novo