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 | - | - | - | - | - | - | - | + | - | - | - | - | - | - | - |