We need long-term secure funding to provide you the information that you need at your fingertips. Otopalatodigital syndrome spectrum disorders: Nyhan and Sakati described a family with 4 affected females in 3 successive generations. Ureteral obstruction was observed in the original case Melnick and Needles, and in several others reported. X-linked or autosomal dominant, lethal in the male, inheritance of the Melnick-Needles osteodysplasty syndrome?
These three eigenstates of the weak interaction form a complete, orthonormal basis for the Standard Model neutrino. Observations of neutrino oscillation have experimentally determined that for neutrinos, like the quarks , these two eigenbases are not the same - they are "rotated" relative to each other. Each flavor state can thus be written as a superposition of mass eigenstates, and vice versa. The PMNS matrix, with components U ai corresponding to the amplitude of mass eigenstate i in flavor a , parameterizes the unitary transformation between the two bases:.
The vector on the left represents a generic neutrino state expressed in the flavor basis, and on the right is the PMNS matrix multiplied by a vector representing the same neutrino state in the mass basis. Due to the difficulties of detecting neutrinos , it is much more difficult to determine the individual coefficients than in the equivalent matrix for the quarks the CKM matrix.
As noted above, PMNS matrix is unitary. In the simplest case, the Standard Model posits three generations of neutrinos with Dirac mass that oscillate between three neutrino mass eigenvalues, an assumption that is made when best fit values for its parameters are calculated. The PMNS matrix is not necessarily unitary, and additional parameters are necessary to describe all possible neutrino mixing parameters in other models of neutrino oscillation and mass generation, such as the see-saw model, and in general, in the case of neutrinos that have Majorana mass rather than Dirac mass.
There are also additional mass parameters and mixing angles in a simple extension of the PMNS matrix in which there are more than three flavors of neutrinos, regardless of the character of neutrino mass. As of July , scientists studying neutrino oscillation are actively considering fits of the experimental neutrino oscillation data to an extended PMNS matrix with a fourth, light "sterile" neutrino and four mass eigenvalues, although the current experimental data tends to disfavor that possibility.
In general, there are nine degrees of freedom in any unitary three by three matrix. However, in the case of the PMNS matrix five of those real parameters can be absorbed as phases of the lepton fields and thus the PMNS matrix can be fully described by four free parameters. An infinite number of possible parameterizations exist; one other common example being the Wolfenstein parameterization.
The mixing angles have been measured by a variety of experiments see neutrino mixing for a description. From Wikipedia, the free encyclopedia. In addition, he had atrial septal defect, pulmonic stenosis, intestinal malrotation, and ectopic kidney. They reviewed the features in these disorders and in OPD1 and suggested that these disorders constitute a single entity. Melnick-Needles syndrome is an X-linked dominant disorder.
Most cases described are in females. Nyhan and Sakati described a family with 4 affected females in 3 successive generations. Melnick studied 4 additional families in the United States; in two, 3 generations were affected and in the other two, 2 generations. The Melnick-Needles syndrome had been assumed to be an autosomal dominant disorder.
However, Gorlin and Knier analyzed reported families with restudy of some. Melnick had reexamined the male 'cases' in the kindred he reported in and found them in fact to be normal. In all, Gorlin and Knier found 23 patients in 15 pedigrees. Most cases were sporadic and may represent new mutations. In only 3 pedigrees was there transmission from one generation to the next, always female to female. Ter Haar et al. This disorder was later characterized as a distinct entity and named Frank-ter Haar syndrome See also review by Wettke-Schafer and Kantner Svejcar found an increased content of collagen; the sclerosing bone process may be an expression thereof.
X-linked inheritance is established by the demonstration of Robertson et al. All had mutations in exon 22 of the gene. One mutation was found in 6 individuals, a second mutation in 5, and a third mutation in a single case. The girl had an unaffected twin sister who did not carry the mutation; the unaffected mother also did not carry the mutation.
The twins were born with separate amniotic sacs within a single chorion, and zygosity analysis indicated a high probability that the girls were monozygotic twins. Osteodysplasty Melnick and Needles' syndrome: Melnick-Needles syndrome in males: Hyperlaxity in males with Melnick-Needles syndrome.
X-linked or autosomal dominant, lethal in the male, inheritance of the Melnick-Needles osteodysplasty syndrome? Melnick-Needles syndrome in males. Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear.
L'osteodysplastie syndrome de Melnick et de Needles. Osteodysplasty Melnick and Needles syndrome. An undiagnosed bone dysplasia: Melnick-Needles syndrome in a mother and her son.
Genetic and Malformation Syndromes in Clinical Medicine. Otopalatodigital syndrome spectrum disorders: Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Deafness in osteodysplasty of Melnick and Needles. Biochemical abnormalities in connective tissue of osteodysplasty of Melnick-Needles and dyssegmental dwarfism. Congenital malformations associated with maternal osteodysplasty. Osteodysplasty Melnick-Needles syndrome in a male. Melnick-Needles syndrome osteodysplasty in an older male--report of a case and a review of the literature. Omphalocele and multiple severe congenital anomalies associated with osteodysplasty Melnick-Needles syndrome.
Melnick-Needles syndrome with omphalocele and renal hypoplasia. X-linked dominant inherited diseases with lethality in hemizygous males. The male Melnick-Needles syndrome phenotype.
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