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Brief cytogenetic case report: A 4.5-year-old girl with deletion 4q syndrome — de novo, 46,XX,del(4) (pter→q31:) |
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| Authors: | Robert S. Young Catherine G. Palmer Harvey A. Bender David D. Weaver M. E. Hodes John M. Opitz |
| Abstract: | A 3.5-year-old white girl had growth and mental retardation of prenatal origin, unusual facial appearance, cleft palate, abnormal sternum, absence or hypoplasia of some digits, diaphragmatic hernia, ventricular septal defect, and rib and vertebral anomalies. Her karyotype was 46,XX,del(4)(pter→q31:). |
| Keywords: | 4q– syndrome chromosome defect deletion |