New Syndrome Associated With Partial Deletion of Short Arms of Chromosome No. 4

作者: José Carneiro Leäo

DOI: 10.1001/JAMA.1967.03130180100026

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摘要: Clinical and cytogenetic findings in a male infant with partial deletion of the short arms No. 4 chromosome are described. The clinical seven known cases (labeling studies have been done five) were compared relation to those cat cry syndrome. Features characteristic syndrome an absence cat-like cry, seizures, prominent glabella, midline scalp defects, deformities iris, cleft lip palate or high-arched palate, preauricular dimple, misshapen nose, hypospadias infants, hypoplasia dermal ridges. is considered be entity distinct from

参考文章(3)
José Carneiro Leāo, Richard Neu, LyttI. Gardner, HYPOSPADIAS AND OTHER ANOMALIES ASSOCIATED WITH PARTIAL DELETION OF SHORT ARMS OF CHROMOSOME NO. 4 The Lancet. ,vol. 287, pp. 493- 494 ,(1966) , 10.1016/S0140-6736(66)91501-7
O.J Miller, W.R Breg, D Warburton, D.A Miller, A Decapoa, A.M Chutorian, DELETED LATE-REPLICATING CHROMOSOME 4/5 The Lancet. ,vol. 288, pp. 105- 106 ,(1966) , 10.1016/S0140-6736(66)91835-6
Kurt Hirschhorn, HerbertL. Cooper, I.Lester Firschein, Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Human Genetics. ,vol. 1, pp. 479- 482 ,(1965) , 10.1007/BF00279124