The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Prenatal Cytogenetics 295 21 fetuses had an echogenic focus, compared with 62 (4.7%) of 1312 fetuses without trisomy 21. The presence of this finding increased the risk of trisomy 21 fourfold. In two of the trisomy 21 fetuses, no other ultrasound abnormalities were seen. In a retrospective blinded study of pregnancies at 15–21 weeks’ gestation, Norton et al. found an echogenic focus of unspecified location in the heart in 5 of 21 (24%) trisomy 21 fetuses compared to 4 of 75 (5%) controls, yielding an odds ratio (OR) for trisomy 21 of 5.5 (1.12 < OR < 28.4) when an echogenic focus is seen (164). The variations in reported incidences of intracardiac echogenic foci probably reflect the differences in definition of echogenic foci and in ultrasound machines. Ranzini et al. (165) noted that visualization depends on the orientation of the four-chamber view. In 89 fetuses with intracardiac echogenic foci, the foci were seen in only 29 with a lateral four-chamber view and they were seen in all 89 with an apical four-chamber view (165). Wax et al., in a study of second-trimester high-risk pregnancies, classified the foci by their echo amplitude and found that fetuses whose echogenic foci images were lost at the same gain setting as that of the thoracic spine had a 40% risk of aneuploidy (two of five fetuses, p = 0.005) (166). That some centers report an association between the foci and an increased incidence of trisomy 21 and other chromosome abnormalities whereas others do not might reflect differences in the populations studied—whether small or large, whether high risk or not. Overall, it is advisable to discuss the finding with the patient and counsel her of the probable increased risk of trisomy 21 and possibly other chromosome abnormalities even if no other abnormal ultrasound findings are present. NUCHAL TRANSLUCENCY AND INTRACARDIAC ECHOGENIC FOCI To test the hypothesis that increased first-trimester nuchal translucency is associated with isolated intracardiac foci in the second trimester, Prefumo et al. evaluated 7686 normal singleton fetuses who had a nuchal translucency scan and either a subsequent normal follow-up scan at 18–23 weeks (n = 7447) or isolated intracardiac foci (n = 239) (167). They found that the prevalence of intracardiac echogenic foci in fetuses with normal nuchal translucency was 2.9% versus 8.1% in the fetuses with abnormal nuchal translucency. The adjusted OR was 2.92. The authors concluded that an association exists between first-trimester nuchal translucency and second-trimester intracardiac echogenic foci, so they should not be used independently in risk calculations. Nasal Bone Hypoplasia or “absence” of the nasal bone has become the most rewarding recent ultrasound finding that appears to improve the detection of fetuses with trisomy 21 (168–172). See Fig. 6 for images of normal and hypoplastic nasal bones. In 2001, Cicero et al. reported that in about 70% of fetuses with trisomy 21 from 11 to 14 weeks’ gestation, the nasal bone is not visible. In a follow-up study to determine whether fetal nuchal thickness and the level of maternal serum biochemical markers are independent of the presence or absence of the nasal bone, Cicero’s group performed a retrospective case-control study of 100 trisomy 21 fetuses and 400 chromosomally normal fetuses. The nasal bone was absent in 69 and present in 31 of the trisomy 21 fetuses. There were no significant differences in any of the other study variables. It was concluded that for a false-positive rate of 5%, screening with nuchal thickness, nasal bone, maternal free β-hCG, and PAPP-A would be associated with a detection rate of 97%. For a false-positive rate of 0.5%, the detection rate was 90.5% (173). Another study by Cicero et al. (171) attempted to answer the question concerning the association between “absence” of the nasal bone at 11–14 weeks and chromosome abnormalities. In this study, 3829 fetuses were studied. Maternal ethnic origin was recorded. The fetal profile was successfully recorded in 98.9% of cases. In 3358 of 3788 cases, the fetal chromosomes were normal, and in 430, they were abnormal. In the chromosomally normal group, the incidence of absent nasal bone was related primarily to the ethnic origin of the mother. It was absent in 2.8% of Caucasians, 10.4% of Afro-Caribbeans, and 6.8% of Asians.
296 Linda Marie Randolph Fig. 6. Detection of nasal bone abnormalities with ultrasound. (A) A normal nasal bone is shown by arrows in a 27-week-gestation fetus; (B) a hypoplastic nasal bone is shown in a fetus at 32 weeks gestation. This fetus also has a thickened nuchal fold and the mother had a positive triple marker screen but refused amniocentesis. (Courtesy of David A. Miller, M.D.) The nasal bone was absent in 66.9% of fetuses with trisomy 21. In trisomy 18 fetuses, it was absent in 57.1%, and with trisomy 13, it was absent in 31.8%. In Turner syndrome and in other chromosome abnormalities, the rate was 8.3–8.8%.
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The Principles of Clinical Cytogene
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The Principles of Clinical Cytogene
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v Preface In the summer of 1989, on
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vii Preface to First Edition The st
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ix Contents Preface ...............
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Contributors SARAH HUTCHINGS CLARK,
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History of Clinical Cytogenetics 1
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4 Steven Gersen The hypotonic solut
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6 Steven Gersen marrow aspiration,
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8 Steven Gersen 9. Hsu, T.C. (1952)
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10 Martha Keagle Fig. 1. DNA struct
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12 Martha Keagle Fig. 3. Transcript
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14 Martha Keagle Fig. 5. Translatio
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16 Martha Keagle Fig. 7. The levels
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18 Martha Keagle single-copy DNA is
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20 Martha Keagle Fig. 10. Mitosis.
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22 Martha Keagle Fig. 11. Schematic
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24 Martha Keagle Fig. 13. Spermatog
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Human Chromosome Nomenclature 27 IN
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Human Chromosome Nomenclature 29 Fi
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Human Chromosome Nomenclature 33 Ta
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Human Chromosome Nomenclature 47 In
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Human Chromosome Nomenclature 49 Ma
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Human Chromosome Nomenclature 51 Un
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Human Chromosome Nomenclature 53 Ta
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Human Chromosome Nomenclature 55 46
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Human Chromosome Nomenclature 57 nu
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Basic Laboratory Procedures 59 II E
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Basic Laboratory Procedures 63 INTR
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Basic Laboratory Procedures 65 amni
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Basic Laboratory Procedures 67 Prep
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Basic Laboratory Procedures 69 Fig.
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Basic Laboratory Procedures 77 Lack
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Basic Laboratory Procedures 79 Once
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82 Christopher McAleer Fig. 1. Sche
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84 Christopher McAleer measurements
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86 Christopher McAleer allow light
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88 Christopher McAleer High-dry obj
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90 Christopher McAleer Fig. 3. Sche
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Quality Control and Quality Assuran
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Automation in the Cytogenetics Labo
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Autosomal Aneuploidy 131 III Clinic
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Autosomal Aneuploidy 133 INTRODUCTI
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135 Table 1 Parental and Meiotic/Mi
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Autosomal Aneuploidy 137 Fig. 2. Sc
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Autosomal Aneuploidy 139 forming ab
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Autosomal Aneuploidy 141 Fig. 5. Th
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Autosomal Aneuploidy 143 Fig. 6. Pr
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Autosomal Aneuploidy 145 Fig. 8. An
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Autosomal Aneuploidy 147 trisomies,
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Autosomal Aneuploidy 149 21 and ind
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Autosomal Aneuploidy 151 molecular
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Autosomal Aneuploidy 153 Fig. 10. T
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Autosomal Aneuploidy 155 This marke
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Autosomal Aneuploidy 157 47. Hawley
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Autosomal Aneuploidy 159 110. Lindo
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Autosomal Aneuploidy 161 171. Moghe
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Autosomal Aneuploidy 163 231. Reese
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Structural Chromosome Rearrangement
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177 Prader-Willi Paternal deletion
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179 Table 2 Some Recurring Duplicat
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Sex Chromosomes and Sex Chromosome
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Page 283 and 284: 268 Linda Marie Randolph By 1986, m
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Cytogenetics of Spontaneous Abortio
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348 Xiao-Xiang Zhang Fig. 1. An exa
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350 Xiao-Xiang Zhang cases availabl
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352 Xiao-Xiang Zhang Fig. 2. Metaph
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354 Xiao-Xiang Zhang patients, grea
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356 Xiao-Xiang Zhang Fig. 5. G-Band
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358 Xiao-Xiang Zhang Fig. 7. Sister
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360 Xiao-Xiang Zhang REFERENCES 1.
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Cytogenetics of Hematologic Neoplas
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387 Table 5 Association of Recurren
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389 del(8)(q22) t(8;16)(p11.2;p13)
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391 +17 -17 2° assoc. with +21 i(1
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Cytogenetics of Solid Tumors 421 IN
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423 Aytpical (see well-differentiat
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Cytogenetics of Solid Tumors 425 So
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Cytogenetics of Solid Tumors 427 ca
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Cytogenetics of Solid Tumors 429 do
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Cytogenetics of Solid Tumors 431 cl
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Cytogenetics of Solid Tumors 433 Fi
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Cytogenetics of Solid Tumors 439 no
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Cytogenetics of Solid Tumors 441 ch
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Cytogenetics of Solid Tumors 445 8.
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Cytogenetics of Solid Tumors 447 64
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454 Daynna Wolff and Stuart Schwart
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Fragile X 491 VI Beyond Chromosomes
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Fragile X 495 18 Fragile X From Cyt
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Fragile X 497 Fig. 1. Appearance of
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Fragile X 499 Table 4 Characteristi
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Fragile X 501 (KH domains) and clus
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Fragile X 503 have suggested differ
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Fragile X 505 The premutation form
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Fragile X 507 Table 4). FRAXE expan
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Fragile X 509 35. Heitz, D., Devys,
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Fragile X 511 93. Bennetto, L. and
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Fragile X 513 147. Oostra, B.A. and
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516 Jin-Chen Wang Fig. 1. Diagramma
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518 Jin-Chen Wang (50) and IGF2 (pa
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520 Jin-Chen Wang 3. Imprinting cer
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522 Jin-Chen Wang UNIPARENTAL DISOM
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524 Jin-Chen Wang Fig. 3. A diagram
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526 Jin-Chen Wang cause SRS (183).
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528 Jin-Chen Wang Studies comparing
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530 Jin-Chen Wang upd(21)pat Two ca
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532 Jin-Chen Wang 25. Ledbetter, D.
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534 Jin-Chen Wang 84. Bürger, J.,
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536 Jin-Chen Wang 138. Dryja, T.P.,
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538 Jin-Chen Wang 192. Karanjawala,
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540 Jin-Chen Wang 248. Creau-Goldbe
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542 Sarah Hutchings Clark condition
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544 Sarah Hutchings Clark the couns
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546 Sarah Hutchings Clark the coupl
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548 Sarah Hutchings Clark chromosom
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550 Sarah Hutchings Clark SMITH-MAG
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552 Sarah Hutchings Clark often at
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554 Sarah Hutchings Clark The relat
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556 Sarah Hutchings Clark Although,
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558 Sarah Hutchings Clark 33. Nicol
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560 Index Abnormalities, order of,
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562 Index Anus, imperforate, 310 AP
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564 Index CDK4, 394 CDK6, 396 CDKN2
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566 Index mosaicism, in amniotic fl
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568 Index Cutaneous anaplastic larg
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570 Index proximal 15q, 178, t179 p
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572 Index Folic acid pathway, 75 Fo
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574 Index Hereditary neuropathy wit
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576 Index Intrachromosomal recombin
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578 Index Male-specific region, Y c
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580 Index MTX, 76 Mucosa-associated
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582 Index Octamer, 14 Okazaki fragm
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584 Index Premature separation of s
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586 Index Recombinant chromosomes n
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588 Index Sézary syndrome (SS), t3
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590 Index t(4;14), 475 t(5;10), 375
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592 Index Treacher Collins syndrome
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594 Index Xq deletions, 225 Y trans
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596 Index XX males, 467, f468 and a
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