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
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 % | − |