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Table 1 Molecular profile of patients

From: Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies

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 2 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
  1. Note: F female, M male, y year, m month, d day, DD developmental delay