Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation.
Interstitial deletions of the long arm of chromosome 4 are rare. The deletions may occur at the proximal or the distal portions of the chromosome and different breakpoints may be involved. We report an interstitial deletion of 4q: 46XY der 4 (q28;q35) in a six-year-old boy with dysmorphic features associated with moderate mental retardation. Parental chromosomal analysis showed a balanced paternal translocation.
Mdzin
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Department of Pathology, Faculty of Medicine, Hospital Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, Cheras, Kuala Lumpur, Malaysia. ayureena@hotmail.com
Ko
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Abdul Latif
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Zakaria
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D000015:Abnormalities, Multiple / Q000235:genetics; D001827:Body Height; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics; D002894:Chromosomes, Human, Pair 4; D005220:Fathers; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic