Biomedical subjects
Publications and source records attributed to J J Hoo.
The identification of a deleted extra chromosome 22 by means of the DNA replication banding pattern is reported. The characteristics of DNA replication banding, its advantages and superiority in chromosome identification are described.
Two brothers with faciodigitogenital syndrome are presented. The family pedigree shows an X-linked recessive mode of inheritance. A favorable outcome of this syndrome in terms of final height, intelligence and life expectancy is emphasized.
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A method for obtaining a combination of differential sister chromatid staining and DNA replication banding is described. Using this method the SCE points can be precisely localized to particular bands of individual chromosomes. It was shown, that SCEs occur not only in the regions of early DNA replication (= euchromatic segments = negative G-bands), but also in the regions of late DNA replication bands (=heterochromatic segments=positive G-bands). SCEs occurred about three times more frequently in the euchromatic segments than in the heterochromatic segments. Furthermore, more SCEs were observed in the early replicating X-chromosome than in the late replicating X-chromosome.
A method is presented for obtaining a combination of differential sister chromatid staining. G-banding and X-chromosome inactivation pattern. The result of this method enables a precise localization of the sister chromatid exchange points to particular bands of individual chromosomes.
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A girl with a complex rearrangement of chromosome 9 is reported. She shows the characteristic clinical features of monosomy 9p syndrome. The rearrangement was apparently preceded by four breaks which resulted in a presumptive tiny deletion of the distal end of the short arm, inversion of the rest of this arm and a proven deletion of the secondary constriction region of the long arm. By means of C-banding, it was possible to demonstrate the paternal origin of the rearranged chromosome 9. Finally, it is shown that the region determining the phenotypic expression of monosomy 9p syndrome is seemingly located at band 9p24.
A kindred with the Aarskog Syndrome (facio-digito-genital syndrome) is presented. The favorable outcome of this syndrome in terms of final height, intelligence and life expectancy is emphasized. It is pointed out that cleft lip and cleft pastic dermatoglyphic pattern includes simian creases and distal axial tiriradii. The pedigree analysis from 14 known kindreds strongly suggests an X-linked recessive mode of inheritance. It is noteworthy that the female carriers frequently showed varying and milder expression of the syndrome, especially in their facies and hands.
A rare familial occurrence of middle lobe bronchiectasis is reported in two siblings of a family with seven children. No definite cause for the development of bronchiectasis could be established. Enlarged hilar lymph nodes were found in the resected middle lobe which were compressing the middle lobe bronchus, and this may have contributed to the development of bronchiectasis.
A simplified and rapid method is described for phenotyping of sulfamethazine acetylation. Two hours after a test dose of sulfamethazine, free and total sulfamethazine are estimated in blood drawn either by capillary or venipuncture. The present method offers sharp segregation between slow and rapid acetylators, requires micro blood volumes drawn from finger- or ear pucture, and is more convenient for population genetics survey as well as for clinical investigations.
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A 2 2/3-year-old girl with 12p trisomy resulting from a maternal translocation is presented. Her clinical symptoms are strikingly similar to the other four cases known in the literature. A characteristic combination of symptoms for a 12p trisomy syndrome is delineated.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.