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Table 1 Comparison of present case with reported cases with trisomy 7q21 → qter/ 7q22 → qter due to parental balanced-translocations

From: A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature

  Forabosco et al., 1988 [9] Courtens et al., 2001 [1] Rodriguez et al., 2002 [10] Present case
Case 1 Case 2 Case 3 Case 1 Case 2
Age Newborn Newborn 7 months Fetus - 9 wks Newborn 5 months 2 years and 4 months
Sex F M F F F F F
Cytogenetic result
- Trisomy 7q21-qter 7q21-qter 7q22-qter 7q21.2-qter 7q21.2-qter 7q21.2-qter, 15p 7q22.1-qter
- Monosomy 5p14-pter 13q33-qter 1qter 21p12-pter 4q35-qter 14q32.3-qter
- Parent t(5;7)mat t(7;13)pat t(1;7)mat t(7;21)mat t(4;7)pat t(7;15)mat t(7;14)mat
Delivered at (weeks) 41 39 32 Termination 37 + 6 days 40 35 + 2 days
Birth weight 2200 g 2850 g 1950 g (271 g) 1940 g 2.700 g 1500 g
Newborn respiratory distress + + + NA + + +
Hypotonia + + +    +  
Microcephaly + +      
Wide fontanelles +   + +   + +
High forehead    + + +   +
Prominent occiput    +     +
Other skull anomalies      Asymmetry   Scaphocephaly
Triangular face      +   +
Hypertelorism + + + + +   +
Flat/wide nasal bridge + + + + +   +
Down slanting eyes + + +   +   +
Other eye anomalies    L/Anoph-thalmia   Micro-ophthalmia   Retinal changes
Low-set ears + + + + +   +
Malformed ears + + +   +   
Small nose + + + +    +
Micro/retrognathia + + + + + + +
Macroglossia   + +   +   
Cleft palate   +   + + +  
High arched palate        +
Short neck + + + + +   +
Low hairline      + Posterior   + Anterior
Clinodactyly      +   +
Skeletal deformities   Clubfoot     Scoliosis Calcaneovarus
Cardiovascular defects     L/S SVC   PDA, HCM  
CNS malformations +a   +b   +c +d +e
Abnormal EEG/ Seizures    +    +  
GI malformations     Malrotation Complexf   
Mental retardation NA NA + NA NA + +
Survival 38 h 23 h 7 months Termination 2 days 11½ months Alive
  1. adilated ventricles–mild hydrocephalus; bdiffuse hypodensity of cerebral white matter; cfocal cortical dysplasia of cerebellar vermis; ddilatation of lateral ventricles, subependymal hemorrhage, multicystic encephalomalacia; ebilateral lateral ventriculomegaly and periventricular thalamic striations; fagenesis of appendix, hypoplasia of gallbladder, small and deformed pancreas, NA not applicable, HCM hypertrophic cardiomyopathy