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Case Reports
. 1983 Dec;20(6):464-5.
doi: 10.1136/jmg.20.6.464.

Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33)

S A Al-Awadi, T I Farag, K Naguib, A Teebi, A Cuschieri, S Al-Othman, T S Sundareshan
Case Reports

Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33)

S A Al-Awadi et al. J Med Genet. 1983 Dec.

Abstract

A child with a de novo interstitial deletion, 46,XX,del(2)(q31q33), is described. Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia, abnormal ears, overlapping fingers, simian creases, and rocker bottom feet.

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References

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