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

2. TRANSLOCATION

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5. 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
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7. 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
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14. 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.

20. Simian crease

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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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25. 47,XX,+18 ABNORMAL FEMALE WITH TRISOMY 18
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Fig Two infants illustrating craniofacial characteristics of trisomy 18 (prominent occiput, low-set malformed ears and small chin).

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32. ABNORMAL FEMALE WITH TRISOMY 13
47,XX,+13
ABNORMAL FEMALE WITH TRISOMY 13
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38. 69,XXX ABNORMAL FEMALE WITH CHROMOSOMAL TRIPLOIDY
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40. 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”

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46. PARTIAL
Normal X Ring “Dot”
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Chromosome 2 = Red
X chromosome = Green

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55. Angelman Syndrome (deletion 15q11-q13)
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q11
q13

56. Angelman Syndrome: 15q11probe
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58. FISH for IgH/14q32 (dual color breakapart probe) Two fusion signals indicating no rearrangement of IgH locus
NORMAL BONE MARROW

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