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In this study, we have compared the hemoglobin A2 levels (Hb A2) of α-thalassemia carriers (-α/-α and -α/αα genotypes) with those of double heterozygotes for δ+ and β° thalassemia genes, who were identified by family studies and polymorphic restriction site analysis within the β-globin...
Amniocentesis and amniotic fluid trehalase enzyme assay were offered to 14 pregnant women at a 1 in 4 risk for a child with cystic fibrosis. Twelve of these pregnancies were screened at the 18th week of gestation; ten proceeded to term, seven following the finding of a normal trehalase activity...
Metacarpophalangeal pattern profile (MCPP) was determined on 38 Prader-Willi syndrome individuals and compared with a previous report on 16 patients. Chromosome analysis showed an interstitial deletion of the long arm of chromosome 15 in 20 subjects and normal chromosome results in the remaining...
A Sicilian family is reported in which 36 individuals, in 5 successive generations, were affected with congenital cataracts, microcornea and myopia with an autosomal pattern of inheritance.
Two sisters and an unrelated girl presented a distinct intrauterine growth retardation-malformation syndrome with short stature, microcephaly, pectus excavatum, hip dislocation, hypoplastic pubic region and genitalia, camptodactyly, talipes, shortened 2nd toes, hypoplastic patella and skeletal...
A detailed account is given of a 5-year-old girl with the facio-audio-symphalangism syndrome. This genetic disorder has been known previously by other names, including the WL syndrome. The reasons for suggesting this new descriptive term are given, along with a review of the literature.
A large deletion of the long arm (q11.21) of chromosome Y without mosaicism was found in a 28-year-old male. The proband has a normal height and normal male habitus but with azoospermia. The occurrence of H-Y+ level, azoospermia and loss of a great portion of euchromatic Yq in the proband is...
We report a child with clinical features remarkably similar to those of our patient reported as tetrasomy 21 in 1982. Improved banding in this, and the previous case, together with gene dosage studies, and subsequent reports in the literature lead us to conclude that these patients are in fact...
Three trisomic offspring conceived by artificial insemination by donor (AID) were observed in a population in which a total of about 400 babies were so conceived. To test whether this excess represented a random fluctuation or a real effect of the AID procedure we surveyed, by questionnaire, a...
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