Familial complex chromosomal rearrangement in a dysmorphic child with global developmental delay.
We report the unusual case of a dysmorphic child with global developmental delay secondary to a familial complex chromosomal rearrangement (CCR). His chromosomal analysis using G-banding and dual colour fluorescence in situ hybridisation with whole chromosome paint revealed a supernumerary marker chromosome as a result of malsegregation of a familial CCR involving chromosomes 7, 12 and 14. The balanced form of this familial CCR was also carried by the patient's mother and maternal grandmother, both of whom had a history of recurrent spontaneous abortions, as well as his maternal uncle, who was infertile. To the best of our knowledge, this is the first reported case of familial CCR involving chromosomes 7, 12 and 14. This case also highlights the importance of chromosomal analysis in children with dysmorphism and developmental delay as well as in adults who suffer from recurrent spontaneous abortions or infertility.
Department of Paediatrics, Monash University Malaysia, JKR 1235, Bukit Azah, Johor Bahru 80100, Malaysia. ngim.chin.fang@med.monash.edu.my
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D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008991:Monitoring, Physiologic / Q000379:methods; D010375:Pedigree; D011379:Prognosis; D018570:Risk Assessment