Case Reports in Genetics / 2016 / Article / Tab 1

Case Report

An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly

Table 1

Clinical features in patients with interstitial deletions overlapping the 7q33-36.1 region.

Characteristic traitsPresent studyRush et al., 2013 [6]Sehested et al., 2010 [7]Sehested et al., 2010 [7]Dilzell et al., 2015 [8]Bisgaard et al., 2006 [4]Fagan et al., 1994 [9]Rossi et al., 2008 [10]Caselli et al., 2008 [5]
Chromosomal deletion7q33-36.17q34-36.17q34-36.27q34-36.27q33-357q34-36.27q357q33-357q36.1-36.2
GenderMaleFemaleMaleFemaleFemaleFemales (twins)FemaleFemaleFemale

Neurodevelopmental features
 Developmental delay/+++++++
 intellectual disability
 Autism spectrum disorder++
 Attention deficit+++++
 Language delay+++++++++
 Abnormal brain MRI++
 Seizures+++++++
 Insomnia+++
Craniofacial features
 Microcephaly++
 Deep-set eyes++++++
 Hypermetropia++
 Hypertelorism++++
 Epicanthal folds+
 Broad/depressed nasal bridge+++
 Bulbous nose+++++++++
 Abnormal philtrum+++
 Thin upper lip++
 Cleft lip/palate+
 Micrognathia+
 Retrognathia+
 Low set ears++
 Preauricular pits++
 Abnormal pinnae++
Other
 Hearing impairment+++
 Short stature++++++
 Long slender fingers++
 Ophthalmologic abnormality+++++
 Long QT syndrome++
 Renal hypoplasia++

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