KCAr III. Basic Nomenclature rules - match the following chromosome rearrangemen
ID: 214450 • Letter: K
Question
KCAr III. Basic Nomenclature rules - match the following chromosome rearrangements with to the appropriate symbols. (I pt) 1. A deletion in region 1, band S in the long arm of chromosome 4 c. del(4)(p15) a. del(4Xq15) b. del(q15X4) region 2 with break points in bands 2 and 6. d. del(4)Xbl.5) 2. Paracentric inversion (2 breaks in the same arm) in the long arm of chromosome 3 a. para(3)(922q26) b. inv(3)(q22q26) c. cen(2)q32436) d. inv(4:2Xq246) t(14:21)(p 11, q); del(21p) a. Translocation of long arm of chromosome 14 to the short arm of chromosomes 3. 21 and the long arm of chromosome 21 is deleted. b. Translocation of the short arm of chromosome 21 to the short arm of chromosome 14 and the loss of the long arm of chromosome 14 at region 1 band 1 and the entire long arm of chromosome 14. c. Loss of chromosome 21 and duplication of the short arm of chromosome 14 at band I region 1 and the entire long arm. d. Translocation of the long arm of chromosome 21 to the short arm of chromosome 14 with the retention of the chromosome 14 centromere. The break in chromosome 14 is in the short arm at region 1, band 1. The entire short arm of 21 is lost. IV. Preparation of Karyotypes. 1. Briefly explain how a karyotype is prepared. (1 pt) There are only three autosomal trisomic conditions (Patau, Edward, and Down Syndrome) where a fetus will survive to birth. Why do we not see other forms of trisomy in newborns (see your textbook, Chapter 8) (I pt) 2.Explanation / Answer
1) del(4)(q15) - del indicates deletion, q indicates long arm, 4 indicates chromosome 4, 1 indicates region, 5 indicates band.
2) inv(3)(q22q26) - inv denotes inversion, 3 is the chromosome, q is the long arm, 2 is the region, 2 and 6 are the bands. Paracentric iversions do not include the centromere, pericentric inversions include the centromere.
3) Translocation of the long arm of chromosome 21 to the short arm of chromosome 14 with the retention of the chromosome 14 centromere. The break in chromosome 14 is in the short arm at region 1, band 1. The entire short arm of 21 is lost.
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