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Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital disorder . Since the deletion takes place on the q arm of chromosome 11, it is also called 11q terminal deletion disorder. [ 1 ]
Trigonocephaly can either occur in a syndrome or isolated, all by itself. Trigonocephaly is associated with the following syndromes: Bohring-Opitz syndrome, Muenke syndrome, Jacobsen syndrome, Baller–Gerold syndrome and Say–Meyer syndrome. The etiology of trigonocephaly is mostly unknown although there are three main theories. [1]
Creutzfeldt–Jakob disease (CJD), also known as subacute spongiform encephalopathy or neurocognitive disorder due to prion disease, is a fatal neurodegenerative disease. [4] [1] Early symptoms include memory problems, behavioral changes, poor coordination, and visual disturbances. [4]
The syndrome is diagnosed in an increasing number of children prenatally by amniocentesis and chorionic villus sampling [24] in order to obtain a chromosome karyotype, where the abnormality can be observed. It is estimated that only 15–20% of children with 47,XYY syndrome are ever diagnosed. Of these, approximately 30% are diagnosed prenatally.
Camptodactyly can be caused by a genetic disorder. In that case, it is an autosomal dominant trait that is known for its incomplete genetic expressivity . This means that when a person has the genes for it, the condition may appear in both hands, one, or neither.
Harris platelet syndrome (associated with giant platelet disorder) Macrothrombocytopenia and hearing loss; May–Hegglin anomaly (associated with giant platelet disorder) MYH9-related disease (associated with giant platelet disorder) PRKACG-related thrombocytopenia; Paris-Trousseau thrombocytopenia/Jacobsen syndrome; Sebastian syndrome
Monosomy, with the presence of only one chromosome (instead of the typical two in humans) from a pair, which affects chromosome 14. Fetuses with monosomy 14 are not viable. [1]
Wolf–Hirschhorn syndrome (WHS) is a chromosomal deletion syndrome resulting from a partial deletion on the short arm of chromosome 4 [del(4)(p16.3)]. [3] Features include a distinct craniofacial phenotype and intellectual disability .