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

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

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	-	+

mos = mosaic, sSMC =?small supernumerary marker chromosome.
^*Supplementary online reference list.
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.
^**From http://ssmc-tl.com/sSMC.html [accessed 05/09/2014].

ISSN: 1755-8166