A review of the results of chromosomal analyses done at the National Institutes of Health from 1991 to 2007 / Carmencita David-Padilla [and four others]

Contributor(s): Subject(s): Abstract: The Medical Genetics Unit of the University of the Philippines, College of Medicine, which subsequently became the Institute of Human Genetics-National Institutes of Health, University of the Philippines Manila in 1999, houses the Cytogenetics Laboratory that services many hospitals throughout the country through processing of peripheral blood, cord blood, bone marrow and skin/tissue samples for cytogenetic analysis. Bone marrow, cord blood and skin/tissues account for 14.9%, 8.5% and 1.8% of samples analyzed, respectively, and the remainder are peripheral blood(74.8%). This paper presents the results of a retrospective review of the chromosomal analysis done on peripheral blood samples from 1991 to 2007. Of the 10655 samples submitted, 8391 were samples from patients and 2264 were research samples on cytogenetic effects of environmental toxins, (i.e. pesticides, etc.) on high risk populations. Of the 8391 patient samples analyzed, 73.0% were from hospitals in Luzon, 4.0% from Visayas, and 0.9% from Mindanao. Samples from private health practitioners clinics from different parts of the country accounted for 11.7% of the samples received. There was no information given on source of sample in 10.3%. The top 3 reasons for referral for cytogenetic effects of environmental toxins (i.e. pesticides), and current miscarriages/ poor obstetric history. Numerical chromosome abnormalities (86.6%) were more common than structural abnormalities (13.39%). Among the numerical abnormalities, 90.2% were autosomal, and Trisomy 21 is the most common type of aneuploidy seen. For sex chromosome abnormalities, the classic form of Turner was prevalent. Deletions, additions, and translocations were the most predominantly ascertained structural abnormalities of the chromosomes in this review. This paper aims to review the abnormal results of the chromosomal analysis done on peripheral blood samples of patients processed by the Cytogenetics Laboratory of the Institute of Human Genetics from 1991 to 2007. Data of research samples will not be included in this paper.
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The Medical Genetics Unit of the University of the Philippines, College of Medicine, which subsequently became the Institute of Human Genetics-National Institutes of Health, University of the Philippines Manila in 1999, houses the Cytogenetics Laboratory that services many hospitals throughout the country through processing of peripheral blood, cord blood, bone marrow and skin/tissue samples for cytogenetic analysis. Bone marrow, cord blood and skin/tissues account for 14.9%, 8.5% and 1.8% of samples analyzed, respectively, and the remainder are peripheral blood(74.8%). This paper presents the results of a retrospective review of the chromosomal analysis done on peripheral blood samples from 1991 to 2007. Of the 10655 samples submitted, 8391 were samples from patients and 2264 were research samples on cytogenetic effects of environmental toxins, (i.e. pesticides, etc.) on high risk populations. Of the 8391 patient samples analyzed, 73.0% were from hospitals in Luzon, 4.0% from Visayas, and 0.9% from Mindanao. Samples from private health practitioners clinics from different parts of the country accounted for 11.7% of the samples received. There was no information given on source of sample in 10.3%. The top 3 reasons for referral for cytogenetic effects of environmental toxins (i.e. pesticides), and current miscarriages/ poor obstetric history. Numerical chromosome abnormalities (86.6%) were more common than structural abnormalities (13.39%). Among the numerical abnormalities, 90.2% were autosomal, and Trisomy 21 is the most common type of aneuploidy seen. For sex chromosome abnormalities, the classic form of Turner was prevalent. Deletions, additions, and translocations were the most predominantly ascertained structural abnormalities of the chromosomes in this review. This paper aims to review the abnormal results of the chromosomal analysis done on peripheral blood samples of patients processed by the Cytogenetics Laboratory of the Institute of Human Genetics from 1991 to 2007. Data of research samples will not be included in this paper.

In: Acta Medica Philippina, 2009 vol 43 (1) pages: 4-6

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