The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Cytogenetics of Spontaneous Abortion 335 Fig. 3. Paternal triploid, 69,XXY karyotype. Patient presented with markedly elevated β-hCG at 16 weeks. Note the very large placenta in relation to the size of the fetus. Fig. 4. Maternal triploid. Note the very small placenta in relation to fetal size, and fetus with micrognathia, syndactyly, and disproportionately large cranium in relation to body. might explain the preponderance of 46,XX karyotypes, whereas fertilization by a diploid sperm could result in either a 46,XY or a 46,XX karyotype. The 46,YY karyotype appears to be nonviable (55). Hydatidiform moles pose a risk of undergoing malignant transformation, becoming choriocarcinomas. Because of this, the diagnosis is critical for patient management. The triploid conceptus does not appear to have the same malignant potential (58,59). The mechanism for malignant transformation in the complete mole appears to be relaxation of imprinting with expression of genes that would normally
336 Solveig Pflueger be repressed (60,61). Imprinting has also been suggested as an explanation for the difference in phenotype between the maternal and paternal triploids (62). Although the experienced perinatal pathologist should have little difficulty in recognizing the true hydatidiform mole based on the histologic appearance of the villi, cytogenetic evaluation should be considered whenever there is a question of the diagnosis since follow-up with serial hCG levels is crucial in order to prevent a malignancy in cases of complete mole. Both complete hydatidiform moles and most triploids appear to represent random errors at the time of fertilization. As such, a significant impact on the risk for other chromosomal abnormalities in subsequent pregnancies is not expected. Berkowitz et al. studied 1205 pregnancies following a complete molar pregnancy and found no increase in risk for stillbirth, prematurity, ectopic gestations, malformations, or spontaneous abortion (63). However, there appears to be a recurrence risk of about 1–2% for a future mole following a molar pregnancy (63–66). Early sonographic surveillance is suggested for future gestations to rule out recurrent mole, and postnatal hCG determinations are recommended to rule out persistent trophoblastic disease (63). Several pedigrees suggesting familial predisposition to molar pregnancies have also been reported (67–70), although the significance of family history on risk has not yet been established with certainty. Structural Rearrangements Structural rearrangements are less common than the other types of chromosomal abnormalities in pregnancy losses. Approximately 1–2% of spontaneous abortions show structural rearrangements. Jacobs summarized 5726 karyotyped spontaneous abortions, revealing 0.28% balanced and 1.54% unbalanced rearrangements (71). Balanced rearrangements include Robertsonian translocations, reciprocal translocations, and inversions (see Chapter 9). A survey of the literature by Dewald and Michels revealed translocations in 2.1% of couples with recurrent miscarriage (72). Translocations were found in 1.7% of male patients and 2.6% of female patients. This compares with an incidence of 1 in 500 (0.2%) in newborns (73). The frequency of balanced rearrangements in spontaneous abortions is not markedly increased over that seen in live births. This is not unexpected, because balanced rearrangements are typically not associated with significant phenotypic alterations and are usually compatible with embryonic and fetal life. The most frequent unbalanced rearrangements result from Robertsonian translocations (see Chapters 3 and 9). These might occur de novo or be familial in origin. The incidence of unbalanced Robertsonian translocations is much higher in spontaneous abortuses that live births, reflecting the uterine mortality of trisomic conceptuses. Other unbalanced structural rearrangements seen in spontaneous abortions include abnormal chromosomes with extra or missing material, ring chromosomes, and small supernumerary chromosomes. De novo rearrangements are more frequently paternal in origin (74). Analysis of human sperm revealed considerable variability among donors (0–17.8%) with a median of 9.3% abnormal sperm, consisting primarily of breaks, fragments, and small deletions. Increased susceptibility of sperm to chromosomal damage could explain the paternal origin of the majority of rearrangements. Although many structural rearrangements are de novo, the majority appear to be familial. Numerous studies of patients experiencing recurrent pregnancy loss have shown that these individuals are at increased risk of carrying a balanced chromosomal rearrangement. Cytogenetic analysis to rule out structural rearrangements and genetic counseling are indicated for couples who have experienced two or more losses. Because most balanced rearrangement carriers can produce both balanced and unbalanced gametes, a combination of normal and abnormal conceptions is frequently seen in such couples, and rearrangements might be more likely in those who have experienced both miscarriages and live births than in those with only miscarriages (75,78). Campana and colleagues note that the chromosomes and breakpoints involved in structural rearrangements do not appear to be random (76). Survival of pregnancies with unbalanced chromosomal complements appears to be dependent on the particular chromosome and segment(s) involved.
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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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Cytogenetics of Infertility 247 INT
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Cytogenetics of Infertility 249 Amo
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Cytogenetics of Infertility 251 Tab
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Cytogenetics of Infertility 253 gen
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255 Primary ciliary dyskinesia Auto
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Cytogenetics of Infertility 257 cha
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Cytogenetics of Infertility 259 Tab
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Cytogenetics of Infertility 261 Fig
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Cytogenetics of Infertility 263 rat
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Cytogenetics of Infertility 265 39.
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268 Linda Marie Randolph By 1986, m
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270 Linda Marie Randolph Table 1 Ch
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272 Linda Marie Randolph Table 4 Th
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274 Linda Marie Randolph Table 6 Fr
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276 Linda Marie Randolph rate of 14
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278 Table 8 Outcome in Early (11-14
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280 Linda Marie Randolph Table 9 Vo
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282 Linda Marie Randolph In 1995, O
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Page 375 and 376: 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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