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Distal 5q deletion syndrome: Phenotypic correlations

American Journal of Medical Genetics, 2001
We describe the phenotypes of two male sibs with partial monosomy of chromosome 5 [46,XY,der(5)inv ins(1;5)(p32;q35.4q34)]; maternally derived from a balanced insertion of 1 and 5 [inv ins (1;5)(p.32;q35.4q34)]. One sib had microcephaly, cleft lip and palate, facial anomalies, atrial (ASD) and ventricular (VSD) septal defects, camptodactyly 4th and 5th
I A, Schafer +5 more
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Genotype/phenotype correlations in Wilms' tumor

Medical and Pediatric Oncology, 1996
Study of genotype/phenotype relationships involving the Wilms' tumor (WT) gene, WT1, in WT patients has provided insights into the function of the WT1 protein, a transcriptional regulator, and has suggested possible mutational mechanisms important in the etiology of WT.
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Genotype-Phenotype Correlation in Trichilemmal Cysts