![]() Prevalence estimates range from 1:62,000 to 1:45,000 live births. The detailed clinical descriptions indicate predominant CdLS phenotype, although additional TS manifestations may appear in adolescence.Ĭornelia de Lange syndrome (CdLS OMIM 122470, 300590, and 610759) is an inherited congenital developmental disorder characterized by distinctive features including facial dysmorphism, growth and cognitive impairment, limb malformations, hirsutism and the involvement of other organ systems with variable expressivity. The coexistence in several patients of these two rare disorders raises the issue of whether there is indeed a cause-effect association. These findings indicate that, ontogenically, the NIPBL mutation may have appeared before the mosaic monosomy X. However, the percentage of cells with monosomy X was low and variable in tissues. ![]() The NIPBL mutation was present in the two tissues analysed from different embryonic origins (peripheral blood lymphocytes and oral mucosa epithelial cells). She also presented with minor clinical features consistent with TS, including peripheral lymphedema and webbed neck. The patient showed a severe form of CdLS with craniofacial dysmorphism, pre- and post-natal growth delay, cardiovascular abnormalities, hirsutism and severe psychomotor retardation with behavioural problems. Here we report a four-year-old female with CdLS due to a frameshift mutation in the NIPBL gene (c.1445_1448delGAGA), who also had a tissue-specific mosaic 45,X/46,XX karyotype. Turner syndrome (TS) results from the partial or complete absence of one of the X chromosomes, usually associated with congenital lymphedema, short stature, and gonadal dysgenesis. This gene encodes a key regulator of the Cohesin complex, which controls sister chromatid segregation during both mitosis and meiosis. Mutations in NIPBL gene account for about 60% of patients with CdLS. Cornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized by facial dysmorphism, growth and cognitive impairment, limb malformations and multiple organ involvement.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |