In only 3 pedigrees was there transmission from one generation to the next, always female to female. Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. Nyhan and Sakati described a family with 4 affected females in 3 successive generations. 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. They suggested that the gene may be X-linked and that the former condition is the usual phenotype in hemizygous males and the latter condition the usual phenotype in heterozygous females.
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. Flavour in particle physics Flavour quantum numbers Isospin: I or I 3 Charm: T or T 3 Electric charge: Progress of Theoretical Physics.
His facial features were similar to those of his mother. He was not short, but was mentally retarded. His radiologic examination showed sclerotic skull base, ribbon-like flaring of ribs, short bowed clavicles, small pelvis with thin iliac crest, and moderate flaring of the distal part of the long bones. 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.