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Interstitial deletion of the short arm of chromosome 4 in a boy with mild psychomotor retardation and dysmorphism
Author(s) -
Ishikawa Tatsuya,
Sumi Satoshi,
Fujimoto Shinji,
Shima Yasuko,
Wada Yoshiro
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03586.x
Subject(s) - microcephaly , psychomotor retardation , growth retardation , psychomotor learning , chromosome , genetics , psychomotor disorder , endocrinology , medicine , biology , pathology , pregnancy , gene , psychiatry , alternative medicine , cognition
A 17‐month‐old boy is reported with 46,XY,del(4) (p15.2p15.32). He had mild psychomotor retardation and multiple minor anomalies, without growth retardation or microcephaly, which differs from the classical 4p‐ syndrome (Wolf‐Hirschhorn syndrome). The activity of dihydropteridine reductase, a genetic marker for chromosome 4p15.3, was half that in a normal control.