Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q.

Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12qThe proband, a male, was the second child of young, healthy parents.The older brother is healthy.The preg- nancy progressed normally with spontaneous delivery at 39 weeks.Birth weight was 2030 g, length 44 cm, and head circumference 33 cm.Craniofacial dysmorphism included hypertelorism, upward slanting palpebral fissures, broad nasal bridge, bilateral cleft lip and palate, macrostomia, retrognathia, and deep set, dorsally rotated auricles.There was overriding of the second and fifth fingers bilaterally, rocker bottom feet, and short big toes.Cardiac findings suggested an atrial septal defect and a superior ventricular septal defect.Recurrent vomiting and haematemesis was observed and the child's development was retarded.He died at 10 weeks and the parents refused necropsy.Chromosomal analysis of lymphocyte cultures showed an interstitial deletion of the long arm of chromosome 12: 46,XY,del(12)(q13.3-3q21 -1).Fibroblast cultures obtained post mortem confirmed this finding.Parental karyotypes were normal.The phenotype of the child was suggestive of trisomy 18.The cleft lip and palate could be consistent with this diagnosis, as about 25% of patients with trisomy 18 exhibit FIG 1 The proband with interstitial deletion 12q.