Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18.
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A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the short arm. The propositus' sister carrier the recombinant 18 with a duplication of the distal one-third of the long arm and a deficiency of the terminal segment of the short arm. The relative length of the inverted segment represents about 60% of the total chromosome 18 length. The probability of recombinant formation following the occurrence of a chiasma within the inverted segment is predicted to be high. (+info)
Hereditary index finger polydactyly: phenotypic, radiological, dermatoglyphic, and genetic findings in a large family.
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Index finger polydactyly in a Turkish family is reported. The transmission of the malformation fits the pattern of regular autosomal dominant inheritance. Some of the affected individuals had one or two phalanges on their first digits, but all had triphalangeal second fingers. Subjects with polydactyly had very interesting dermatoglyphs, such as an extra a triradius under the super-numerary index finger, the proximal radiant of this triradius (an extra A-line) ending on the radial border of the hand, and arch tibials in the hallucal areas. The carpal bones, beginning with os multangulum majus, or alternatively with the extra one were articulated with two metacarpals. A similar finding was found in the feet. (+info)
The palm print as a sensitive predictor of difficult laryngoscopy in diabetics: a comparison with other airway evaluation indices.
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AIMS: To evaluate the ink impression made by the palm of the dominant hand as a screening tool for difficult laryngoscopy in diabetic patients. SUBJECTS AND METHODS: In this prospective study, airway of 50 adult diabetic patients, undergoing elective surgery under general anaesthesia, was assessed preoperatively using the common clinical indices such as Modified Mallampati test, thyromental distance, degree of head extension and a specific index- the palm print test. Following induction of anaesthesia and neuromuscular relaxation, laryngoscopy was performed and the laryngoscopic view scored. The sensitivity, specificity and positive predictive value of each airway evaluation index were calculated. RESULTS: The incidence of difficult laryngoscopy was 16%. The palm print test had the highest sensitivity (75%) of all the indices. The thyromental distance less than six cm had the highest specificity (95.2%) but was least sensitive (25%). 87% of patients with difficult laryngoscopy had two or more indices abnormal. CONCLUSION: Though the palm print test was the most sensitive index of the four indices studied, a better prediction of difficult laryngoscopy can be achieved by evaluating all the four airway indices preoperatively. (+info)
Dermatoglyphic patterns, very low birth weight, and blood pressure in adolescence.
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AIMS: To test the null hypotheses that finger and palm prints have no relation with fetal growth or adolescent blood pressure. METHODS: All 128 singleton, unimpaired, very low birth weight (VLBW; < or =1500 g) infants born to mothers resident in the county of Merseyside in 1980 and 1981 were studied retrospectively. The comparison group consisted of 128 age, sex, and school matched children. Main outcome measures were blood pressure at age 15 years, birth weight ratio, fingerprint patterns, and palmar AtD angles. RESULTS: The VLBW index population had a significantly higher systolic blood pressure than the comparison group (mean difference 3.2 mm Hg). The difference in diastolic blood pressure between the VLBW index and the matched comparison group was not significant. No significant differences were found in the palmar AtD angles or in the fingerprint proportions of arches, loops, and whorls and no correlation was found between fingerprint patterns and blood pressure. Among the VLBW index population, both height and right palmar AtD angle were independently and significantly correlated with and explained 12.1% of the variance in the systolic blood pressure. Birth weight ratio, as a measure of fetal growth restriction, had no significant correlation with systolic blood pressure. CONCLUSIONS: The higher systolic blood pressure of adolescents who were of very low birth weight compared with the matched comparison group is not associated with fingerprint patterns or birth weight ratio as markers for fetal growth restriction. (+info)
Neurodevelopmental risk factors in schizophrenia.
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The authors review environmental and neurodevelopmental risk factors for schizophrenic disorders, with emphasis on minor physical anomalies, particularly craniofacial anomalies and dermatoglyphic variations. The high prevalence of these anomalies among schizophrenic subjects supports the neurodevelopmental theory of the etiology of schizophrenia, since they suggest either genetically or epigenetically controlled faulty embryonic development of structures of ectodermal origin like brain and skin. This may disturb neurodevelopment that in turn may cause these subjects to be at increased risk for the development of schizophrenia and related disorders. The precise confirmation of this theory, at least in some cases, will provide further understanding of these illnesses, allowing easy and inexpensive identification of subjects at risk and providing guidelines for the development of new pharmacological interventions for early treatment and even for primary prevention of the illness. (+info)
Fingerprint ridge-count difference between adjacent fingertips (dR45) predicts upper-body tissue distribution: evidence for early gestational programming.
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Fingerprint ridge counts, which remain constant from the 19th week of pregnancy, are related to fingertip growth during early gestation. Each finger corresponds neurologically to a spinal-cord segment ranging from C6 (thumb, relatively cephalad) to C8 (fifth finger, relatively caudad). The authors hypothesized that large ridge-count differences between fingertips (cephalad > caudad) might reflect fetal inhibition of caudal growth. Among 69 male Atlanta, Georgia, military recruits (1994-1997; aged 17-22 years), they tested associations of the anthropometric waist-to-thigh ratio with 20 ridge-count differences. Waist-to-thigh ratio was associated with the ridge-count difference between the right fourth and fifth fingertips only (dR45; r = 0.36, p = 0.003). The race-adjusted standardized regression coefficient was 0.22 (95% confidence interval: 0.03, 0.41). Since upper-body tissue distribution indicates disease risk, the authors then tested the association of age (an indicator of survivorship) with dR45 in a sample of 135 male patients from Bangalore, India (1989-1990; aged 38-82 years). Age was inversely associated with dR45 (r = -0.17, p = 0.04), notably among the 75 men with diabetes (r = -0.22, p = 0.06). An increased dR45 predicts an upper-body tissue distribution originating before the midpoint of pregnancy. The cause of this developmental pattern is unknown, but it may lead to reduced survivorship. (+info)
The occurrence of gonadal dysgenesis in association with monozygotic twinning.
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A case is presented of a monozygotic twin pair, discordant for phenotypic sex, in which the female member showed gonadal dysgenesis and chromosomal mosaicism. Review of the pertinent literature reveals that in monozygotic twin pairs, phenotypic and karyotypic concordance is the usual occurrence for Down's and Klinefelter's syndromes, whereas discordance often accompanies gonadal dysgenesis. Mosaicism is a frequent concomitant of gonadal dysgenesis in monozygotic twins. Our case strengthens the probability of a real association between mosaicism and monozygotic twinning in gonadal dysgenesis. (+info)
Aglossia-adactylia syndrome.
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Aglossia-adactylia is described in two male patients, aged 31 and 21 years old. Including a previous reported case (Nevin, Dodge, and Kernohan, 1970) there are three patients with this syndrome in Northern Ireland. The aetiology is unknown but in spite of the extreme variability of the clinical manifestation, a dominant mutant gene cannot be ruled out. (+info)