Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0264733 (ventricular dilatation)
 2,163 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This is a report of a 6 month-old boy with a partial trisomy 2p24-->pter and monosomy 18q22-->qter. This is the first case presenting this unbalanced translocation with phenotypic features. The patient had growth and developmental retardation, facial dysmorphism, cleft palate, congenital cardiopathy, hypospadias, evantration of diaphragm and deafness. Cranial MRI showed mild ventricular dilatation. Cytogenetic analysis of the patient and his parents revealed a karyotype 46,XY, der(18), t(2;18)(p24;q22)mat in the patient. Subtelomeric FISH analysis confirmed the cytogenetic findings. Phenotypic features were consistent with either partial trisomy 2p or deletion 18q.
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PMID:Partial trisomy 2p24-->pter and monosomy 18q22.1- qter resulting from parental translocation. 2403 88