Indian Journal of Dermatology
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Year : 2012  |  Volume : 57  |  Issue : 3  |  Page : 222-224

Terminal 4q deletion syndrome

Department of Dermatology, Venereology and Leprosy, RNT Medical College, Udaipur, Rajasthan, India

Correspondence Address:
C M Kuldeep
69, Dilshad Bhavan, Chetak Circle, Udaipur - 313 001, Rajasthan
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0019-5154.96203

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Terminal deletion of the long arm of chromosome 4, (4q) is a rare event. It is characterized by spectral phenotypic manifestations, depending upon the site and quantity of chromatin lost. The chromosomal loss which span 4 (q31-q35) segment often manifests as craniofacial anomalies, mental retardation with ocular, cardiac, genitourinary defects and pelvic/limb dysmorphism. These abnormalities are usually unilateral. We report a female child (46, XX), aged 11 months, born to nonconsanguineous parents, bearing chromosomal deletion of 4 (q31.2-35.2) segment, which has manifested as craniofacial hypoplasia of left side of face, ipsilateral ptosis, erythroderma and bilateral thumb anomalies.

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