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At least 253 records · Page 14Linked to original sources
PubMed1999

Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q.

Deletions of chromosome 18q are among the most common segmental aneusomies compatible with life. The estimated frequency is approximately 1/40,000 live births [Cody JD, Pierce JF, Brkanac Z, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ. 1997. Am. J. Med. Genet. 69:280-286]. Most deletions are terminal encompassing as much as 36 Mb, but interstitial deletions have also been reported. We have evaluated 42 subjects with deletions of 18q at our institution. This is the largest number of individuals with this chromosome abnormality studied by one group of investigators. Here we report the physical findings in these individuals. We have compared our findings with those of previously reported cases and have found a significantly different incidence of several minor anomalies in our subjects. We also describe here several anomalies not previously reported in individuals with deletions of 18q, including short frenulum, short palpebral fissures, disproportionate short stature, overlap of second and third toes, and a prominent abdominal venous pattern. Characteristics found in subjects were analyzed for correlation with cytogenetic breakpoints. Several traits were found to correlate with the extent of the deletion. Large deletions were associated with significantly decreased head circumference and ear length as well as the presence of proximally placed and/or anomalous thumbs. Individuals with the smallest deletions were more likely to have metatarsus adductus. Although relatively few genotype/phenotype correlations were apparent, these data demonstrate that correlations with breakpoint are possible. This implies that more correlations will become evident when the more precise molecularly based genotyping is completed. These correlations will identify critical regions on the chromosome in which genes responsible for specific abnormal phenotypes are located.

Adolescent↗
PubMed1999

Correlation of anthropometry with CT in Mexican-American women.

Measurement of regional fat has commonly been accomplished by extrapolation from anthropometric measures. Recent studies of White and Black women have demonstrated differences in intra-abdominal fat, using computerized tomographic (CT) techniques. These same estimates were computed for 48 Mexican American women who were undergoing CT for diagnostic purposes. Waist-hip ratios, waist-thigh ratios, and sagittal diameter index were also calculated. Four (7mm) CT slices between L-4 and L - 5 were analyzed with imaging software. The volume of both subcutaneous and visceral fat was estimated. Like other minority women, Mexican American women had less intra-abdominal fat than subcutaneous fat, which is important because of the association of excess intra-abdominal fat with cardiovascular risk. Intra-abdominal fat volume was significantly predicted by only one variable, sagittal abdominal diameter, while subcutaneous fat volume was predicted by hip and thigh circumferences.

Adipose Tissue↗
PubMed1994

Anthropometry and breast cancer. Body size--a moving target.

Body size is one of the few breast cancer risk factors that can be modified throughout life and therefore should be considered in research on breast cancer prevention. The contrasting effects of body size on premenopausal breast cancer compared with postmenopausal breast cancer and the lack of a strong association between body mass and postmenopausal breast cancer in some cohort studies has led to a view that obesity has little influence on breast cancer risk. These conclusions are based on analyses that consider relative weight at one point in time as an adequate measure of lifelong weight patterns and their metabolic consequences. Recent research suggests that, compared to body mass indices, adult weight gain and increased central body fat may be more specific markers of the metabolic consequences of obesity and therefore may predict health outcomes more consistently. Adult weight gain and increases in central body fat, which commonly occur during menopause, have been associated consistently with an increased risk of postmenopausal breast cancer. The timing of weight gain also appears to influence breast cancer risk; increased relative weight and weight gain after menopause have been associated with the largest increases in relative risks. Overall levels of adiposity, increased central fat deposition, and weight gain are associated with alterations in ovarian hormone and glucose metabolism and in growth factors that may promote breast cancer cell growth. Data on lifelong weight changes and the location of fat depots may more precisely identify women with high risk patterns of sex steroid and glucose metabolism. Similarly, research is needed to determine if weight gain during periods of hormonal change, such as menarche, pregnancy, and menopause, have different biologic effects, perhaps because of differences in the location of fat deposition during these periods. Research also is needed on whether there are critical times relative to breast cancer promotion when excessive weight gain should be avoided. Data are lacking on the influence of weight loss or avoidance of weight gain on breast cancer risk or prognosis.

Anthropometry↗
PubMedDate not supplied

Historical note: Early history of the anthropometry of body composition.

A pioneering paper outlining an anthropometric approach to the study of body composition, written by the Czech anthropologist Jindrich Matiegka, was published in the American Journal of Physical Anthropology in 1921. For a long time we have searched for information about the history of the idea and of the paper itself. In recent years, we were able to identify relevant correspondence in the archives of the Smithsonian Institution of Washington.

Anthropometry↗
PubMed2002

New perspectives on the face in fetal alcohol syndrome: what anthropometry tells us.

Fetal alcohol syndrome (FAS) refers to the adverse effects to the fetus from prenatal exposure to alcohol. Originally, the diagnosis of FAS was given only to those individuals that were the most severely affected. Since that time, it has become apparent that the effects of prenatal alcohol exposure are broad-based, and those individuals diagnosed with FAS represent the severe end of the continuum in their phenotypic expression. This study utilized 21 craniofacial anthropometric measurements on 100 prenatally exposed individuals to quantify the elements of the FAS facial phenotype and to extend the quantitative phenotype to individuals who exhibited less severe or incomplete manifestations of prenatal alcohol exposure.

Alcohol Drinking↗
PubMed1980

Sex chromosome aneuploidy and anthropometry: a new proportionality assessment using the phantom stratagem.

Reported anthropometric data on 121 subjects with 47,XYY,47XXY,47,XXX, and 45,X aneuploidies were compared to those from 578 male and female control subjects by use of a single, unisex reference person ("phantom"). Subjects and controls were geometrically scaled to a standard stature of 170.18 cm, thus eliminating variance due to height. Deviations of anthropometric variables from specified phantom values were expressed as standard z-scores. By comparing z-scores of individual aneuploidy classes with those of their controls, further differences in proportionality came to light. The stratagem disclosed a systematic proportionality pattern between subjects and controls which appeared to be related to each specific sex chromosome aneuploidy. The phantom stratagem for proportional growth assessment appears to merit further use in genetic investigations where individual differences in size and shape confound the analysis of anthropometric data.

Anthropometry↗
PubMedDate not supplied

Anthropometry in Martin-Bell syndrome.

Thirty anthropometric measurements were analyzed in 147 adults with Martin-Bell syndrome (MBS) (56 men and 91 women) and in a random sample of 108 normal women and 111 men. Results of the univariate comparison of the age, height, or weight-adjusted variables between MBS and normal individuals of either sex indicated that a decrease in stature, in upper limb length, and in upper face height, and an increase in jaw length, chest circumference, and waist width occurred in both affected men and in heterozygous women. While the increase in ear height and breadth and in hypermobility of finger joints and decrease in palm width and bigonial diameter occurred only in affected men, increased bispinal and bitrochanteric diameters, upper arm circumference, and palm and wrist widths were characteristic deviations in heterozygous women. Multivariate analysis in the form of principal components showed some differences in the pattern of interrelationships in individual measures between MBS and normal individuals. In particular, and in contrast with both normal groups, height and weight tended to load on separate components (as did head and midfacial measures) in MBS individuals. A discriminant function based on all body measurements included in this study resulted in almost complete separation of discriminant scores of normal from those of MBS men and in good separation of the scores from normal and heterozygous women. Classification rates based on these functions were from 95% in men to 85% in women. These already high classification rates may be further improved mainly by enlarging the samples and including some other category of traits such as dermatoglyphic measurements.

Adolescent↗