- Diseases & Syndromes (4/6) -
OTHER GENETIC DISORDERS
-
Next to the 'autosomal trisomy syndromes' (Group 1 - which were discussed in the previous paragraph), 3 other groups of syndromese are
frequently accompagnied with typical hand features.
However, in these other groups of syndromes the variations are larger compared to group 1 (the 'autosomal trisomy syndromes').
As a consequence the accessory 'phantom-pictures' describe the expected hand features less precise.
-
The following presents an overview of important syndromes in each group:
-
Group 2: Syndromes with a structural chromosomal malformation.
-
Important examples of these syndromes are:
-
1 – fragile-x syndrome (or: Martin-Bell syndrome).
-
2 – Chri-du-chat syndrome (featured with: a defect on chromosome 5p).
-
3 – Wolf-Hirschhorn syndrome (featured with: a defect on chromosome 4p).
-
4 – 18p- syndrome, 18q- syndrome, en 18r syndrome.
-
The scientific literature presents 'phantom pictures' for each of these syndromes.
-
Group 3: Syndromes with a deviant number of sex chromosomes.
-
Important examples in group 3 are:
-
1 – Turner's syndrome (XO).
-
2 – triple-x syndrome (XXX).
-
3 – Klinefelter's syndrome (XXY, XXXY, XXXXY, XXXXXY).
-
4 – XYY syndrome.
-
The scientific literature presents 'phantom pictures' for Turner's syndrome and Klinefelter's syndrome.