Translocation down syndrome among Filipinos and its implications on genetic counseling / (Record no. 3006)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02135nam a22002177a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | DOH |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20210716145605.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 210220b ||||| |||| 00| 0 eng d |
| 245 02 - TITLE STATEMENT | |
| Title | Translocation down syndrome among Filipinos and its implications on genetic counseling / |
| Statement of responsibility, etc. | Carmencita David-Padilla [and four others] |
| 520 3# - SUMMARY, ETC. | |
| Summary, etc. | A review of the results at the Medical Genetics Unit, University of the Philippines (UP) College of Medicine (1991-1999) and at the Institute of Human Genetics, National Institutes of Health (IHG-NIH), University of the Philippines Manila (1999-2007) showed that Down Syndrome (DS) or Trisomy 21 accounted for 68.0% of all abnormal results detected. Trisomy 21 is caused by the presence of an extra chromosome 21 and the risk increases with advancing maternal age. There are 3 types of DS- full trisomy 21, mosaic trisomy 21 and translocation DS accounting for 88.3%, 7.2% and 3.3%, respectively. About 25% of translocation DS are familial and 75% are de novo. The familial cases are offspring of parents who are carriers of a balanced translocation involving chromosome 21 and another chromosome. This confers an increased risk of recurrence in subsequent pregnancies and the identification of such families is crucial. If the mother is a balanced carrier of a t(13/14/15/22;21), there is about a 12% risk for another DS child to be born in each subsequent pregnancy. If the father is the carrier, the observed risk drops to about 3% for DS. However, for translocation of 2 chromosome 21 [t(21:21)] which accounted for 50.0% of translocations detected, the implications will be different. A parent who is a balanced carrier of a t(21:21) will only have 2 outcomes for the pregnancy, unbalanced translocation DS and a lethal monoscomy. |
| 580 ## - LINKING ENTRY COMPLEXITY NOTE | |
| Linking entry complexity note | In: Acta Medica Philippina, 2009 vol 43 (1) pages: 12-15 |
| 650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Down Syndrome |
| 650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Translocation, Genetic |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | David-Padilla, Carmencita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cutiongco-de la Paz, Eva Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chiong, Mary Anne D. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Charcos, Grace S. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cadag, Nene S. |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Koha item type | Journal Article |
| 999 ## - | |
| -- | 3006 |
| -- | 3006 |
| Withdrawn status | Lost status | Source of classification or shelving scheme | Damaged status | Not for loan | Home library | Current library | Shelving location | Date acquired | Total Checkouts | Full call number | Barcode | Date last seen | Price effective from | Koha item type |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| National Library of Medicine | DOH Central Library | DOH Central Library | Electronic Resource Section | 02/20/2021 | J000090 | D0001J000090 | 02/20/2021 | 02/20/2021 | Journal Article |