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Table 2 Clinical manifestations of 7q deletion cases

From: 7q36 deletion and 9p22 duplication: effects of a double imbalance

Case Present case Frühmesser et al. 2012[10] Ponnala and Dalal, 2011[11] Vorsanova et al. 2008[12] Ahn et al. 2003[13] Nowaczyk et al. 2000[14] Chen et al. 1999[15] Savage et al. 1997[16] Hara et al. 1986[19]
Karyotype 46,XY, der (7), t(7;9) (q36;p22), 9 ph 46,XX, der(7), t(7;17) (q36;p13) 46, XY, der (7), t(7;14), (q33-q32.2) 45,XX, der(7), t(7;21) (q34;q22.13),-21 46,XX, der(7), t(2;7) (q37.3;q34) 46,XY, der(7), t(2;7) (p23.2;q36.1) 46,XX, der(7), t(3;7) (p23;q36) 46,XX, der (7), t(7; 19) (q36.1;q13.43) 46, XX, der(7), t(5;7) (q31:q22)
Origin Paternal Maternal Paternal de novo Paternal Paternal Paternal Paternal Uncertain
Age at diagnosis 5 months § 21 years § 4 years 2 years § fetus fetus § fetus § fetus § 1 year
Developmental delay + + + +      +
Mental retardation   +   +      +
Hypotelorism     +      
Microftalmia       +    
Microcephaly +   + +      +
Up slanting palpebral fissures +    + +     
Malformed ears +   + + +     
Broad/bulbous nasal tip +   + +      +
Arrhinencephaly        +   
Cleft lip      +     
Cleft palate      +     
Nail hypoplasia +         
Hallux vagus +         
Overlapping toes/fingers +   +       
Fingers malformations + +   +      
Multiple skeletal abnormalities   +   +      
Sacral agenesis        + +  
Urogenitally abnormalities +      +    
Epileptic seizures +         
HPE       + +   
Hypoplasia of the corpus callosum + +        
Ciclopia        +   
Muscular Hypotonia + + + +      
Cardiac defetcts     +      
Maternal age at conception 31 30 not informed 24 43 not informed 26 29 35
  1. §Intrauterine growth retardation was reported.