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Proximal 3p Deletion: Case Report and Review of the Literature

1988; Wiley; Volume: 30; Issue: 1 Linguagem: Inglês

10.1111/j.1442-200x.1988.tb02501.x

1442-200X

Kenji Naritomi, Kiyotake Hirayama, Koji Sameshima, Shozo Ohdo,

Prenatal Screening and Diagnostics

Abstract A boy with severe growth and psychomotor retardation, facial dysmorphism, a large atrial septal defect, limitation of joint movement and hearing impairment is described. High‐resolution banding chromosome analysis showed interstitial deletion of the proximal segment of chromosome 3: 46, XY, del(3)(p12p14.2) de novo . The deleted chromosome 3 was of paternal origin as judged from Q‐banding polymorphisms. Delineation of proximal 3p deletion syndrome is proposed by summarizing the clinical and cytogenetical findings of the present and previously reported five patients.