Interstitial deletion of the long arm of chromosome 4 in a patient with mental retardation and abnormal phenotype.

The patient (fig 1) was an 11-year-old Caucasian boy, the second child of non-consanguineous parents aged 21 and 27 at the time of his conception. His elder sister was normal and died accidentally at the age of 7 years. The outcome of the third pregnancy of the couple was an anencephalic male. The proband was born after an uneventful term pregnancy and was delivered with the aid of forceps. His birth weight was 3100 g and the neonatal period was normal. During the first year of life, retardation of developmental milestones and craniosynostosis were detected and craniostomies were performed at 13 and 24 months of age. Now, at the age of 11, his IQ is 60. Physical examination revealed short stature (112 cm, -3-8 SD), small head circumference (49-5 cm, -2-5 SD) and the following minor anomalies of skull and face: brachicephaly, low posterior hair line, facial asymmetry, prominent glabella, shallow orbital ridges, deviated nose, long philtrum, small mouth, irregular placement of the teeth, high arched palate, and micrognathia. The ears were small, low set, and posteriorly rotated. Small testes, widely spaced nipples, and short nails were also noted. Neurological examination showed bilateral Babinski signs.