Terminal 4q deletion syndrome.
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.
Department of Dermatology, Venereology and Leprosy, RNT Medical College, Udaipur, Rajasthan, India.
C M
CM
Kuldeep
A K
AK
Khare
Anubhav
A
Garg
Asit
A
Mittal
Lalit
L
Gupta