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Two unrelated girls, aged 6 and 8 years, respectively, are presented with complete trisomy 22 in the absence of detectable mosaicism. In each case, the extra chromosome has been unambiguously identified as chromosome #22. The features which were consistent in both girls included: advanced...
The association of taurodontism with hypoplastic/hypomature enamel defects is presented in two cases of X-chromosome aneuploidy (47,XXY) and one of X-linked recessive Amelogenesis Imperfecta. It appears that the X-chromosome not only plays some role in tooth size (the degree of taurodontism...
Two cases of Cri du Chat syndrome were found to have a ring chromosome 5 in almost all their cells. The lack of the No. 5 short arm p15 band in both cases sufficed to produce the well-known features.
A previously undescribed genodermatosis consisting of tiny hyperpigmented spots aggregated in irregular maculae and mainly localized in the regions exposed to light is reported. Hyperkeratotic papules in the palms and soles were also present. Autosomal dominant inheritance is concluded.
Hypotonic treatment of amnion fluid cell-nuclei was found to enhance demonstration of Y chromatin and of autosomal fluorescence in interphase cell-nuclei following quinacrine mustard staining. In contrast, visualization of the Barr body was not improved by this treatment. Nuclear sex...
The value of preliminary ultrasonography as a guide for amniocentesis in the early second trimester of pregnancy was prospectively evaluated. One hundred and fifty patients were alternately assigned to a control group or to an ultrasound group who underwent examination with a real-time scanner...
Thyroid function has been studied in 121 patients between 13 and 48 years old with proven Down syndrome. Chemically, hypothyroidism was found in 17 % and hyperthyroidism in 2.5 % of the patients; 18 % of patients had goiter. Thyroid antibodies were detected in 33 % of subjects studied. The...
A 38-year-old woman had amniocentesis performed for advanced maternal age. The karyotype of the cultured amniotic fluid cells showed a minute fragment in all cells analyzed, 47,XY+Fg. The fragment could not be identified. For medical reasons the pregnancy had to be terminated at 34 weeks. Both...
An unusual rearrangement of chromosome 9 was identified in a male infant with multiple congenital malformations. The rearrangement appeared as a fusion of two number 9 chromosomes with similar long-arm breakpoints. Since the infant also possessed two normal 9's, the presence of the additional...
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