Multifactorial Genetic Disease

Carter, C. O.

doi:10.1080/21548331.1970.11705857

Cited by 32 publications

(14 citation statements)

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“…The inheritance of NTDs is usually described as being multifactorial or the result of the interaction of many genes and many environmental factors. Assumptions underlying the multifactorial threshold model, which is used to predict recurrence risks in families, include higher underlying genetic liability among more severely affected individuals and a lower genetic threshold in populations with higher rates [Carter, 1970]. It would be interesting to test these assumptions in the northern Chinese population, but unfortunately, recurrence data for NTDs are not yet available.…”

Section: Discussionmentioning

confidence: 99%

Elevated rates of severe neural tube defects in a high-prevalence area in Northern China

Moore

Li²,

Li³

et al. 1997

Am. J. Med. Genet.

148

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In the northern provinces of China, the birth prevalence rate of neural tube defects (NTDs) is among the highest in the world-at about 6 per 1,000 births in rural areas. A unique population-based birth defects surveillance system in which photographs are taken of infants with selected external birth defects was implemented in two provinces in northern China and two provinces in southern China where NTD rates approximate those in the United States. In the period from March 1992 through December 1993, 660 infants with NTDs were identified by the surveillance project from a birth cohort of 251,567. We compared data from the two surveillance areas in China with data from a low-prevalence area in the United States to determine if the pattern of NTD types differs. Based on birth prevalence rates of NTDs from the Metropolitan Atlanta Congenital Defects Program, the observed to expected ratios for two types of NTDs are markedly increased at 80.8 for craniorachischisis and 25.0 for iniencephaly. Rates of these two NTDs in the southern provinces are increased to a lesser degree with observed to expected ratios of 7.1 for craniorachischisis and 2.7 for iniencephaly. The pattern of NTDs in northern China shows an increase in types that are rare in low-prevalence areas such as metropolitan Atlanta. Increased awareness of varying patterns of NTDs in different populations may have important implications for identifying etiologic and pathogenetic mechanisms of NTDs.

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Section: Discussionmentioning

confidence: 99%

Elevated rates of severe neural tube defects in a high-prevalence area in Northern China

Moore

Li²,

Li³

et al. 1997

Am. J. Med. Genet.

148

View full text Add to dashboard Cite

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“…An alternative explanation for the sex differences in rates of CAS and other speech-sound disorders is that there is a sex-specific threshold (Carter, 1969(Carter, , 1973DeFries, 1989). As a higher genetic loading is required for manifestation of the phenotype in females, they should not only have lower rates of disorders, but also more affected family members than male probands.…”

Section: Sex Differences In Casmentioning

confidence: 99%

Family pedigrees of children with suspected childhood apraxia of speech

Lewis

Freebairn

Hansen

et al. 2004

Journal of Communication Disorders

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Forty-two children (29 boys and 13 girls), ages 3-10 years, were referred from the caseloads of clinical speech-language pathologists for suspected childhood apraxia of speech (CAS). According to results from tests of speech and oral motor skills, 22 children met criteria for CAS, including a severely limited consonant and vowel repertoire, difficulty sequencing syllables, and inconsistent and unusual errors. Family pedigrees for these children were constructed through parent interviews and direct testing of nuclear family members. Familial aggregation for speech-sound and language disorders was demonstrated with 86% reporting at least one nuclear family member affected. Based on parent report, 13 of the 22 children (59%) had at least one affected parent. However, CAS was evident in only two siblings of probands with CAS and two probands with other speech-sound disorders. Based on testing, overall affection rates of speech-sound/language disorders were higher in families of children with CAS than in families of children with other speech-sound disorders.Mothers of children with CAS demonstrated a higher affection rate than mothers of children with other speech-sound disorders. A sex-related threshold model of transmission was also supported with brothers more often affected than sisters for male probands only. If our inclusionary criteria for CAS are valid, these findings support a general verbal trait deficit hypothesis. Learning outcomes: (1) As a result of this activity, the participant will understand potential familial risk factors for CAS; (2) will differentiate aggregation for speech-sound and language disorders in families with CAS from families of children who have other speech-sound disorders; (3) will

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“…Such conditions range from congenital defects to diabetes, schizophrenia, cancer, heart disease, and auto immune diseases (33). The sorts of studies described in the previous section indicate that many of these familial disorders result from the interaction of both environmental and genetic influences .…”

Section: Determining How Genetic Susceptibility Is Inheritedmentioning

confidence: 99%