Table 1 Molecular profile of patients
Patient # | Sex | Age at study | Chr21 location (hg19) | Gain/Loss | Size of CNVs (Mb) | Clinical features |
|---|---|---|---|---|---|---|
DECIPHER280573 | F | 14y | 18,582,895-18,983,265 | Gain | 0.4 | DD, Intrauterine growth retardation, microcephaly, alopecia |
S4 | F | 32 y | 18,776,205-19,072,251 | Gain | 0.3 | DD, Mother of S3 |
S1 | M | 2 y | 18,781,100-18,885,813 | Gain | 0.1 | DD, cleft palate, microcephaly, failure to thrive |
S3 | F | 7 y | 18,781,100-19,071,857 | Gain | 0.3 | DD, pulmonary stenosis, autism, mild dysmorphic, daughter of S4 |
DECIPHER273421 | M | 4y | 18,791,730-19,136,039 | Gain | 0.3 | Intellectual disability |
DECIPHER301183 | F | 2y | 18,819,200-19,036,035 | Gain | 0.2 | DD, microcephaly, seizures, hearing and visual abnormality |
DECIPHER257242 | F | 7y | 18,888,629-18,983,265 | Gain | 0.1 | DD, Intrauterine growth retardation, intellectual disability |
D6 | F | 2 y | 21,427,690-24,133,154 | Loss | 2.7 | DD |
D4 | F | 33 y | 22,271,313-23,399,894 | Loss | 1.1 | Mother with Intrauterine fetal demise |
D5 | F | 4 y | 23,793,678-23,948,945 | Loss | 0.1 | DD, epilepsia partialis continua |
D3 | M | 2Â m | 23,840,342-23,941,319 | Loss | 0.1 | Congenital coronary anomaly |
D7 | M | 6 y | 24,289,038-24,396,084 | Loss | 0.1 | Seizures |
S2 | M | 3 y | 28,212,197-29,423,946 | Gain | 1.2 | Preauricular skin tag, eye pterygium, speech delay |
D2 | F | 1 y | 31,005,158-31,236,003 | Loss | 0.2 | Facial dysmorphic features |
S6 | F | 9 d | 35,902,679-36,149,583 | Gain | 0.2 | Diaphragmatic hernia |
S5 | M | 4 y | 37,474,069-37,611,689 | Gain | 0.1 | Pain insensitivity and minor dysmorphisms |
D1 | M | 10 y | 37,540,692-39,328,135 | Loss | 1.7 | Microcephaly, levocurvature of thoracolumbar spine |
Yamamoto, 2011 | F | 13y | 38,528,931-39,009,341 | Loss | 0.4 | DD, seizures, mild brain atrophy |
Courcet, 2012 | F | 4y | 38,722,631-38,791,771 | Loss | 0.1 | Microcephaly, DD, ataxic gait, seizures |
DECIPHER258106 | F | N/A | 38,865,151-38,885,792 | Loss | 0.1 | Microcephaly, scoliosis, deeply set eye, Intrauterine growth retardation, short nose, sparse scalp hair, Hypoglycemia, DD, seizures |
Van Bon, 2011 | F | >20y | 38,874,630-38,927,130 | Loss | 0.1 | Microcephaly, DD, mild brain atrophy, anxious and autistic behaviour |