Table 1.
List of CNVs and distribution of referral reasons in our cohort
| Case ID | Gender | Cytoband | Coordinates (hg19/Build37) | Size, kb | CNV | Phenotype |
|---|---|---|---|---|---|---|
| 1 | M | p11.2 | 29,656,684–30,190,568 | 534 | Deletion | Seizures, generalized anxiety disorder, manic, retromicrognathia, broad nasal bridge, a history of bronchitis, light-colored skin spotting in the sun, nasolabial sulcus, walking at 18 months |
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| 2 | M | p11.2 | 29,656,684–30,190,568 | 534 | Deletion | Decrease in sperm motilation, speech articulation, primary infertility |
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| 3 | F | p11.2 | 29,656,684–30,190,568 | 534 | Deletion | Micrognathia, albinism, and a low hairline |
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| 4 | M | p11.2 | 29,656,684–30,190,568 | 534 | Deletion | Syndactyly |
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| 5 | F | p11.2 | 29,656,684–30,190,568 | 534 | Deletion | Growth retardation, atypical autism, psychomotor delay, loss of speech, and epilepsy |
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| 6 | M | q22.1q22.2 | 68,377,368–72,622,855 | 4,245,488 | Deletion | Micrognathia, large and low-set ears, high-arched palate, straight long nose, overhanging tip of nose, narrow forehead, front fontanel closed, ascending testis, neuromotor growth retardation |
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| 7 | F | p11.2 | 29,656,684–30,190,568 | 534 | Duplication | Wide and depressed nasal bridge, epicanthus, high palate, facial asymmetry, frontal bossing and low-set protruding ears, retrognathia, frontal fontanel open and wide, bilateral internal epicantal folds, low posterior hairline, short neck, bilateral palmar crease in both hands, toes arise from a single root, ear cartilage anomaly, toenails hyperconvex and cleft lip |
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| 8 | M | p11.2 | 29,824,794–29,031,059 | 206 | Duplication | Micrognathia, retromicrognathia, dysplastic left ear, V-shaped facial structure, atypical autism, ADHD |
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| 9 | M | q24.1 | 84,473,191–84,567,551 | 94,361 | Duplication | Cleft palate lip, corpus callosum agenesis, asymmetrically small for gestational age |
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| 10 | F | p13.11p12.3 | 15,404,452–18,631,981 | 3,228 | Duplication | Craniosynostosis |
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| 11 | F | p13.11 | 14,910,205–16,276,115 | 1,366 | Duplication | Recurrent pregnancy loss |
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| 12 | M | p13.11 | 15,125,829–16,229,700 | ˜1.103 | Duplication | Autism spectrum disorder |
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| 13 | M | p13.11 | 14,910,205–16,229,700 | ˜1.319 | Duplication | Recurrent pregnancy loss |
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| 14 | M | q24.3 | 89,824,688–89,874,708 | ˜50 | Deletion | Epilepsy and growth retardation |
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| 15 | F | q24.3 | 89,824,688–89,874,708 | ˜50 | Deletion | Normal (patient #14's mother) |
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| 16 | M | q24.3 | 89,520,504–89,732,173 | ˜211 | Duplication | High risk of double screening test and an increase in nuchal tranlucency |
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| 17 | M | q24.3 | 89,520,504–89,732,173 | ˜211 | Duplication | Normal |
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| 18 | F | q23.2q24.3 | 81,491,655–90,148,393 | 8,657 | Duplication | Intellectual disability |