A third case of an interstitial deletion of the long arm of chromosome 6 with clinical features mimicking Prader-Willi syndrome (PWS) is presented. Although preliminary clinical evaluation in each case suggested PWS, further review revealed that the features in all three cases are not completely compatible with the characteristic findings in Prader-Willi syndrome. Furthermore, the deletions in the three cases do not show a consistent region of overlap. Consequently, no particular band or region in 6q can be defined as associated with obesity. However, our findings confirm the suggestion of Villa et al. in 1995, that individuals with a PWS phenotype who are cytogenetically and molecularly negative for a deletion of 15qlIq13 should be examined for a deletion of 6s.
We report on a non-malformed child with severe microcephaly and profound psychomotor delay. Review of the delivery/birth records documented descriptions consistent with linear disruption of the umbilical cord. This rare anomaly typically leads to acute fetal distress and perinatal death. Severe microcephaly and psychomotor delay without other anomalies should prompt a careful review of the delivery/birth records to search for umbilical cord descriptions consistent with this diagnosis.
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