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NYU SCHOOL OF MEDICINE CYTOGENETICS LECTURE 2

NYU SCHOOL OF MEDICINE CYTOGENETICS LECTURE 2. Mary Ann Perle, Ph.D. TRANSLOCATION. 46,XX,t(4;10) (p14;q11.2) FEMALE WITH A RECIPROCAL TRANSLOCATION BETWEEN THE SHORT ARMS OF A # 4 AND LONG ARMS OF A # 10. 46,XY,der(10)t(4;10)(p14;q11.2)mat

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NYU SCHOOL OF MEDICINE CYTOGENETICS LECTURE 2

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  1. NYU SCHOOL OF MEDICINECYTOGENETICS LECTURE 2 Mary Ann Perle, Ph.D.

  2. TRANSLOCATION

  3. 46,XX,t(4;10)(p14;q11.2) FEMALE WITH A RECIPROCAL TRANSLOCATION BETWEEN THE SHORT ARMS OF A #4 AND LONG ARMS OF A #10

  4. 46,XY,der(10)t(4;10)(p14;q11.2)mat ABNORMAL MALE: UNBALANCED KARYOTYPE WITH AN ABERRANT #10DERIVED FROM A MATERNAL 4q;10q TRANSLOCATION

  5. TEST TEST Frequency / 1000 Births 35 y.o. 40 y.o. Maternal Age Frequency of Down syndrome at birth related to maternal age.

  6. Simian crease

  7. Fig. 2.27a-c. Children with Down syndrome. a. European, b. Afro-American, c. Asian. The common features of Down syndrome are more impressive than the racial differences. Courtesy of Dr. T.M. Schroeder-Kurth

  8. 47,XX,+18ABNORMAL FEMALE WITH TRISOMY 18

  9. Fig. 3-6. Two infants illustrating craniofacial characteristics of trisomy 18 (prominent occiput, low-set malformed ears and small chin).

  10. 47,XX,+13 ABNORMAL FEMALE WITH TRISOMY 13

  11. 69,XXXABNORMAL FEMALE WITH CHROMOSOMAL TRIPLOIDY

  12. FluorescenceInSituHybridization • A molecular tool used to detect genetic abnormalities • A DNA probe finds target sequences on chromosomal DNA as they are found in cells – “in the original place”

  13. 0000016441.jpg

  14. PARTIAL Normal XRing “Dot”

  15. Chromosome 2 = Red X chromosome = Green

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