Clinical Genetics · 1987 · 15 citations · 4 references
Gene Deletion DataCytogeneticsGeneticsMolecular BiologyPathologyMolecular GeneticsGenomicsClinical GeneticsMendelian DisorderCongenital DisordersDisorders Of Sex DevelopmentChromosome 22Health SciencesChromosome NoChromosomal RearrangementDevelopmental AnomalyChromatinFemale ChildDevelopmental BiologyGenetic DisorderNew Interstitial DeletionMultiple AnomaliesChromosome BiologyMedical GeneticsMedicineChromosome 9
A female child is described with multiple anomalies including epicanthus, frontal bossing, short sternum, polydactyly, cleft of the larynx, renal cysts, and unusual dermatoglyphics. She died aged 3 months and was found to have a unique de novo deletion of chromosome No. 4 (q22-q25). This case is compared with other long arm deletions of 4q and reference made to assignment of genetic markers to chromosome No. 4.
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