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Table 1 A comparison of clinical features between the patient of this study and those previously reported with r(11) and distal del(11q) syndrome

From: De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease

Clinical findings r(11) (Hansson KB et al. 2012 [6]) Distal del(11q) syndrome (Grossfeld et al. 2004 [31]) Present patient
Number n = 19 n = 110 1
Gender 14f/5 m 72f/38 m f
Age Ranges from prenatal to adult Ranges from newborn to adult 12 years
De novo 13 +/94 % +
Short stature 14 +/68 %
Microcephaly 14 N. I.
Dysmorphic features 6 +/83 % +
Short and broad neck N. I. +/50 % +
Mental or development retardation 15 range form mild to severe mental retardation, +/85 % Learning difficuties
Congenital heart defect 5 +/56 % +
Skin 13 with café-au-lait spots, 6 of them with other pigment abnormalities, 5 normal +/22 % with eczama Pigment abnormalities
Skeletal abnormality 1 + +
Kidney abnormality 2 Wilm’s tumor +/8 %
Hematological abnormalities (Paris-Trousseau Syndrome) N. A. +/94 %
Recurrent infections N. A. +/54 % +
Gastrointestinal N. A. +/15 %
  1. Clinical findings: +, present; −, absent
  2. f female, m male, N. I. not investigated, N. A. not applicable