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Fig. 4 | BMC Medical Genetics

Fig. 4

From: A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency

Fig. 4

Xq21.1 Deletion. a Graphic representation of part of Xq (corresponding to the region included in the dotted box) with protein coding genes included in this region. The deletion at Xq21.1 detected in our patient (ChrX:77.456.818x1,77.489.632-83.255.802x0,83.287.869x1) is represented by a red rectangle above the boxed region. b Schematic representation of the Xq21.1 deleted region (in red) in our patient and other deletions reported in the Decipher and ISCA database in male patients (in black) and female patients (in grey). The ID of each patient is reported. The clinical features of the patients are reported in parentheses below the corresponding deletion as described in Decipher (https://decipher.sanger.ac.uk/) and ISCA (https://iscaconsortium.org/)

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BMC Medical Genetics

ISSN: 1471-2350

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