Norrie disease (ND), an X-linked recessive disorder, is characterized by congenital blindness followed by bulbar atrophy. We have examined a three-generation family in which ND is part of a complex X-linked syndrome with severe mental retardation, hypogonadism, growth disturbances, and increased susceptibility to infections as additional features. This syndrome is apparently due to an interstitial deletion, as evidenced by the failure of the L1.28 DNA probe (DXS7 locus, Xp11.3) to detect complementary DNA sequences on the defective X chromosome of an affected male and of several obligatory heterozygotes. Attempts to further define this deletion with other DNA probes from the proximal short arm of the X chromosome or by prometaphase chromosome analysis were unsuccessful.
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Article Synopsis
- The article discusses a rare genetic abnormality involving deletions on chromosome 11, specifically between the 11q13 and 11q23 regions, which can lead to various clinical features including intellectual disabilities and malformations, though these do not consistently correlate with specific genetic patterns.* -
- The case study focuses on a 9-year-old boy exhibiting Sprengel's deformity, iris and chorioretinal coloboma, and mild motor development delay, identified to have a significant interstitial deletion on chromosome 11 through advanced genetic testing methods.* -
- The findings emphasize the variability in symptoms associated with 11q deletions and suggest that the observed deformities might not have a direct genetic link but rather could be
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