Direct Familial Transmission of the Turner Phenotype

Nora, James J.; Sinha, Anil K.

doi:10.1001/archpedi.1968.02100020347001

Cited by 29 publications

(11 citation statements)

References 12 publications

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“…In the Noonan syndrom, which occurs in both sexes, even using subtle techniques, no structural abnormality of the chromosomes has been found. Moreover, famiIial occurence is frequent [16,20]. Mendez and Opitz [16] reported a familial incidence of 22%, a figure somewhat higher than in our populations.…”

Section: Discussioncontrasting

confidence: 55%

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Noonan syndrome: growth and clinical manifestations in 144 cases

et al. 1988

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We have analysed growth and the major clinical manifestations of 144 patients (89 males, 55 females) with Noonan syndrome from two West German centres. Size at birth was normal in both sexes. In both males and females, the mean height followed along the 3rd per centile until puberty, but decreased transiently due to an approximately 2 year delay in onset of puberty. Final height approaches the lower limits of normal at the end of the 2nd decade of life. The mean adult height was found to be (n = 20) 162.5 cm in males and (n = 13) 152.7 cm in females, respectively. Smoothed means and standard deviations for height were derived. These data may be used for the statistical evaluation of height of Noonan syndrome patients. Except for mental retardation and microcephaly, which are more frequent in males, the relative frequencies of minor anomalies and malformations were found to be similar in both sexes. The characteristic non-cyanotic heart defects in the Noonan syndrome do not appear to have a major influence on growth. The auxological data were compared with those in the Ullrich-Turner syndrome.

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Section: Discussioncontrasting

confidence: 55%

“…Although this syndrome shares a multitude of findings with the UTS, it is now well established that both syndromes have a different cause [20,29]. The most obvious difference is that UTS can be proven cytogenetically on the basis of monosomy X or a structural abnormality of one of the X-chromosomes.…”

Section: Discussionmentioning

confidence: 99%

Noonan syndrome: growth and clinical manifestations in 144 cases

et al. 1988

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“…In recent years several excellent reviews on the NS have been published (1, 4, 7, 11, 18). Although this syndrome shares a multitude of findings with the UTS, it is now well established that the two syndromes have a different cause (10,18). The most obvious difference is that UTS can be proven cytogenetically on the basis of monosomy X or a structural abnormality of one of the X-chromosomes.…”

Section: Discusssionmentioning

confidence: 99%

“…However, the phenotype of the NS is subject to developmental changes and the expression is highly variable. The incidence of NS is estimated to range between about one in 1,000 to 2,000 live births (10). In most clinical studies the frequency of male and female patients is found to be similar.…”

Section: Discusssionmentioning

confidence: 99%

Spontaneous Growth in Patients with Noonan Syndrome

Ranke

1995

Clin Pediatr Endocrinol

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Noonan syndrome (NS) is a syndrome with great phenotypical resemblance to Turner syndrome (TS). However, there are significant differences between the two disorders. Amongst others cardiac abnormalities in NS usually affect the right side, moderate mental retardation is frequent and hypogonadism commonly affects boys. In NS both genders are affected in equal frequency (total incidence approx. 1: 1,000). Autosomal dominant inheritance occurs in approx. 20 %, but the molecular genetic basis is obscure. There is a disease-specific growth pattern in NS: size at birth is normal, mean height follows approximately the 5th centile of normal children, pubertal growth spurt is delayed and diminished. The pathogenesis of the growth disorder is unknown. Disease-specific growth standards are presented which are useful when evaluating the response to growth-promoting treatment.

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“…In 4 of the original 19 families "definite involvement" of one parent was noted. Three families were subsequently documented by Nora and Sinha [1968], demonstrating direct transmission from an affected parent to both daughters and sons equally. The data were thought to be compatible with X-linked dominant inheritance.…”

Section: Introductionmentioning

confidence: 99%

Genetic counselling in Noonan syndrome

et al. 1993

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A clinical and echocardiographic study is presented of 117 families with Noonan syndrome. The 117 families contained 144 individuals with typical Noonan syndrome. The age range of these individuals was from one week to 45 years (mean 12.0 years). One parent was definitely affected with Noonan syndrome in only 14% of the 117 families (mother 11%, father 3%). In a further 31% of families, one parent had possible signs of Noonan syndrome, based on facial appearance only. Within the apparently sporadic group of probands there was no evidence of increased parental age. Echocardiography demonstrated no cases of subclinical cardiac disease in all first degree relatives examined, and clinical examination alone missed no case of cardiac disease. Segregation analysis of affected pedigrees confirmed autosomal dominant inheritance. If both parents had only possible or no signs of Noonan syndrome, subsequent to the birth of the first child with Noonan syndrome in a family, an empiric recurrence risk of 5% was obtained.

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Direct Familial Transmission of the Turner Phenotype

Cited by 29 publications

References 12 publications

Noonan syndrome: growth and clinical manifestations in 144 cases

Noonan syndrome: growth and clinical manifestations in 144 cases

Spontaneous Growth in Patients with Noonan Syndrome

Genetic counselling in Noonan syndrome

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