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Table 1 The clinical features of patient with similar segmental duplication and/or deletion chromosome

From: Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations

  Patient 1 [8] [9] [15] Patient 2 Patient 3 [16] [17] [22] [23] patient 2 Patient 4 [25] [27] [30] [31]
Segmental duplication/deletion dup 10q25.1-10q26.3; del 6p25.3 dup 10q24-10qter; del 6p23-6pter dup 10q25.1-10q26.3a del 6p25.3 -p25.2b dup 3p26.3-p24.3; del 20p13 dup 3p26.3-24.3; del 20p13 dup 3p26.2-p24.1c dup 3p26.2-p25.3 del 20p13d 20p13-pter dup 3q27.2-3q29; del 22q13.32-22q13.33 dup 3q26.3-qter dup 3q27-qtere, del4p16.3f del 22q13.31–q13.33g del 22q13.3h
Sex F M F F F F M M F F F M F M F
Age at last follow up (years) 3y 1 m 7y 40y 9y 4y 5y 9y 9y 15y 5y 11 m 4y 5y 14y
Development delay + + + - + + + + + + + + + + +
Craniofacial features
 Ocular hypertelorism - + - - + - + - - - - - + - -
 Epicanthic folds - + + - - - - - - - - - + + -
 Depressed nasal bridge + + + - + - + - - - - Wide Wide - -
 Anteverted nostrils + - - - - - - - - - - + - - -
 Long philtrum + Broad Flat - - - - - Flat - - Prominent + - -
 Carp-shaped mouth + + - - - - - - - - - - - - -
 Thin upper lips + - + - + + - - + - - + - - -
 High arched palate + + + - - - - - + + - - - - -
 Micrognathia + + - - - - - - - - - + - - -
 Low set ears + + + - - - - - - + - + - - -
 Malformed ears - + - - - - prominent ears - - + - - - - -
 Low anterior hairline + - + - - - - - + - - + high frontal hairline - -
 Long eyelashes - - - - - - - - - - + + - - -
 Bushy eyebrows - - - - - - - - - - + + - - -
 Facial expression anomaly - - - - + + - - - - + - - - -
 Microcephaly - - - - - - + - - - - - - - +
Cognitive development
 Intellectual disability + + + - + + +(mild) + + + + + + + +
 Language impairment + + + - + + + + - - + N.A + + +
 Learning impairment + N.A + - + + + + + + + N.A N.A N.A N.A
Heart defect - + - - - - - - - - + + - - -
Hearing loss - + + + - - - - - - - - - - -
Hand and foot
 Hand anomaly - + + + - - + + + + + + + + -
 Foot anomaly + + + - - - + - + - - + - - -
 Single palmar crease - + - - - - + - - - + - - - -
Skeletal anomalies
 Limbs + - - - - - - - - - - - - - -
 Scoliosis - - + - - - - - - - - - - - -
 Hip dysplasia - - + - - - - - - - - + - - -
Other
 Muscular hypotonia + - + - - - + - - - + - + + +
 Cerebellar ataxia - - - - - - - - - - + - - - -
 Genital malformation - + - - - - + + - - - - - - -
 Short neck + + + - - - + - + - - + - - -
 Epilepsy - - - - - - + - - + - - - + +
 Round face with full cheeks - - - - + - + + - - - - - - -
 Central obesity - - - - - - - + - - - - - - -
  1. F female, M male, y years, m month, + presence of trait, absence of trait, N.A not available, a: chr 10: 108 299 681–133 745 613, b: chr6: 203,722 - 2,740,501, c: chr3:3943808–29668053, d: chr20:1–1150000, e: chr3:183097052–198295559, f: chr4:1–769191, g: chr22:46,204,739–51,178,264, h: chr22:49,389,829–51,178,264