Gene/Protein Disease Symptom Drug Enzyme Compound
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The Prader-Willi syndrome (PWS) with Angelman's syndrome form a pair known above all due to problems of genetic imprinting and uniparental disomy. Both phenomena drew attention to the importance of control of expression of different alleles and their genetic origin. The causes of the two syndromes have not been elucidated unequivocally so far. In case of the PWS, at least, there is the possibility of a gene of the protein carrier of a small nuclear ribonucleic acid described as SNRPN. In case of Marfan's syndrome the responsible gene is the fibrillin gene (FNB1) with the locus on area 15q21. The mentioned gene participates probably also in diseases caused by a change of the vascular wall (aneurysm) and in prolapse of the mitral valves. On the 15th chromosome are several representatives of the family of genes of cytochrome P450 the products of which play a part in the metabolism of exogenous substances, incl. pharmaceutical ones. Their activity is part of the natural sensitivity or resistance to some chemical cancerogens. The postscriptis devoted to the assumed locus of dyslexia DLX1.
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PMID:[The human genome--chromosome 15]. 758 67

We present two children with de novo interstitial deletions of the long arm of chromosome 2 (karyotypes 46,XY, del(2)(q31.1q31.3) and 46,XY, del(2)(q24.3q31.3), respectively). The first child had severe learning difficulties, growth retardation, unilateral ptosis, small palpebral fissures, a cleft uvula, and bilateral cutaneous syndactyly of the second and third toes. Despite her male karyotype, she had female external genitalia with hypoplasia of the clitoris and labia minora. This is the first reported case of feminization of the external genitalia in a genotypic male with an interstitial deletion of chromosome 2q31 and adds to the growing amount of evidence for a gene involved in sex determination in this chromosome region. The second child had severe mental and growth retardation, ptosis, down-slanting palpebral fissures, low-set ears, micrognathia, finger camptodactyly, and brachysyndactyly of the second to fifth toes. The clinical manifestations associated with deletions of 2q31 to 2q33 are similar to those found with proximal deletions at 2q24 to 2q31 and of band 2q24, suggesting that the phenotype may result from haploinsufficiency for one or more genes located at 2q31. Microsatellite marker studies showed that both children had paternally derived deletions that included the HOXD gene cluster and the EVX2, DLX1, and DLX2 genes known to be important in limb development.
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PMID:Two cases with interstitial deletions of chromosome 2 and sex reversal in one. 1044 Aug 34