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Proximal 3p Deletion: Case Report and Review of the Literature
Author(s) -
Naritomi Kenji,
Hirayama Kiyotake,
Sameshima Koji,
Ohdo Shozo
Publication year - 1988
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1988.tb02501.x
Subject(s) - medicine , chromosome , facial dysmorphism , psychomotor retardation , genetics , psychomotor learning , growth retardation , high resolution , pathology , gene , phenotype , biology , pregnancy , alternative medicine , cognition , remote sensing , psychiatry , geology
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.