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