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Table 1 Clinical features of patients with trisomy 14, mosaicism and sSMC 14

From: Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis

Clinical features % of cases with mos trisomy 14* % of cases with sSMC 14** Our patient
Growth retardation 701 45 +
Developmental/Mental delay 702 27 +
Hypotonia 243 18 -
Microcephaly 254 9 +
Hearing problems 205 9 +
Eye abnormalities 756 9 -
Mouth abnormalities 807 -  
Heart defect 608 9 +
Hip problems 7.59 9  
Extremities anomalies 5810 27 +
Genitourinary abnormalities 3811 9 -
Pigmentary skin lesions 3812 - +
  1. mos = mosaic, sSMC =?small supernumerary marker chromosome.
  2. *Supplementary online reference list.
  3. References 1) 1-4,6,8-10,12,16,17a,17b,20,22,24,26,30-33a-e; 2) 2,3,5,8-12,15,17a-b,18,20,24,27,31-34; 3) 2,8,13,30,33a,33b,33d,33e; 4) 1,3,5-8,10,15,17a,31; 5) 5,10,17b,24,33b-e; 6) 1-13,16,17a-b,20,22-25,27,31,32,33a-e,35; 7) 1-4,6-11,13,15-19,21,22,24-33a-e; 8) 1,3,4,6,9-13,16-17a-b,20,21,23-26,29,32,33b,33d,33e,35; 9) 13,15,33e; 10) 1,2,4-7,9,11,13,16,17b,21,26,27,30,31,33a-e,35; 11) 4,6,7,11,13,16,17a,20,25,30,33a-b,33d-e,34; 12) 2,3,6,8,10,15-17a,20,22-24,31,32,34; from online supplementary list (Additional file 1); a,b,c,d,e: Patient 1,2,3,4,5.
  4. **From http://ssmc-tl.com/sSMC.html [accessed 05/09/2014].