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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 MEDICINECYTOGENETICS LECTURE 2 Mary Ann Perle, Ph.D.
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 ABNORMAL MALE: UNBALANCED KARYOTYPE WITH AN ABERRANT #10DERIVED FROM A MATERNAL 4q;10q TRANSLOCATION
TEST TEST Frequency / 1000 Births 35 y.o. 40 y.o. Maternal Age Frequency of Down syndrome at birth related to maternal age.
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
Fig. 3-6. Two infants illustrating craniofacial characteristics of trisomy 18 (prominent occiput, low-set malformed ears and small chin).
47,XX,+13 ABNORMAL FEMALE WITH TRISOMY 13
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”
PARTIAL Normal XRing “Dot”
Chromosome 2 = Red X chromosome = Green