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Table 1 Features presented in patients with 1q43-q44 deletion and duplication

From: Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings

Clinical features Part or all 1q43-q44 deletion [23] This paper (proband) Part or all 1q43-q44 duplication [8,9,10,11,12,13,14] This paper (younger brother)
Microcephaly 61/81 + 1/8
macrocephaly 5/8 +
Intellectual disability 63/81 + 7/8 +
Corpus colllosum abnormalities 48/81 +
Seizures 52/81 + 4/8
Round face 16/81
Hypertelorism 14/81 5/8
Prominent forhead 10/81 6/8
Up or downward palpebral fissures 18/81 4/8
Long philtrum 18/81 3/8
Abnormal ear shape 29/81 6/8
Caradiac abnormalities 23/81 4/8
Abnormal hand or feet 25/81 6/8
Micrognathia 21/81 3/8
Hypotonia 43/81 2/8
  1. “+”: present; “-”: absent