NYU SCHOOL OF MEDICINE CYTOGENETICS LECTURE 2

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Presentation transcript:

NYU SCHOOL OF MEDICINE CYTOGENETICS LECTURE 2 Mary Ann Perle, Ph.D.

TRANSLOCATION

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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 04.jpg

46,XY,der(10)t(4;10)(p14;q11.2)mat ABNORMAL MALE: UNBALANCED KARYOTYPE WITH AN ABERRANT #10 DERIVED FROM A MATERNAL 4q;10q TRANSLOCATION 06.jpg

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

Simian crease

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19.jpg 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

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47,XX,+18 ABNORMAL FEMALE WITH TRISOMY 18 22.jpg

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

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ABNORMAL FEMALE WITH TRISOMY 13 47,XX,+13 ABNORMAL FEMALE WITH TRISOMY 13 29.jpg

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69,XXX ABNORMAL FEMALE WITH CHROMOSOMAL TRIPLOIDY 35.jpg

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Fluorescence In Situ Hybridization 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”

0000016441.jpg 0000016441.jpg

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PARTIAL Normal X Ring “Dot” 44.jpg

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47.jpg Chromosome 2 = Red X chromosome = Green

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Angelman Syndrome (deletion 15q11-q13) 53.jpg q11 q13

Angelman Syndrome: 15q11probe 54.jpg

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FISH for IgH/14q32 (dual color breakapart probe) Two fusion signals indicating no rearrangement of IgH locus NORMAL BONE MARROW

FISH for IgH/14q32 Split signal indicating positive rearrangement of IgH locus ABNORMAL BONE MARROW