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Table 1 Phenotypic features of 4p interstitial deletion syndrome compared to our patient with 4p15.32p16.1 deletion

From: Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

Clinical features 4p interstitial deletion syndrome 4p15.32p16.1 deletion (current patient)
Developmental delays Mild to severe Severe
Hypotonia 10/13 Yes, severe
Tall thin body habitus 5/10 Thin and short stature
Microcephaly 2/12 Yes
Large beaked nose 8/12 No
Long face 6/12 No
Upslanting palpebral fissures 5/12 Down-slanting palpebral fissures
Hypertelorism 4/12 Yes
Craniosynostosis 1/13 Multi-suture