The Principles of Clinical Cytogenetics - Extra Materials - Springer

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177 Prader–Willi Paternal deletion of Mental and growth retardation, hypotonia and feeding problems in infancy, later obesity associated with 15q11-15q13 a hyperphagia, narrow bifrontal diameter, almond-shaped eyes, small hands and feet, hypogonadism, skin picking. Rubinstein–Taybi 16p13.3 b Mental retardation, postnatal growth retardation, hypotonia, broad thumbs and toes, cryptorchidism, abnormal facies with downward slanting palpebral fissures, heavy highly arched eyebrows, long eyelashes, prominent and/or beaked nose, hypoplastic maxilla with narrow palate Miller–Dieker 17p13.3 a Mental and growth retardation, lissencephaly, microcephaly, bitemporal depression, long philtrum, thin upper lip, mild micrognathia, ear dysplasia, anteverted nostrils Smith–Magenis 17p11.2 a Mental retardation, behavioral problems, hyperactivity, sleep disturbance, decreased pain sensitivity, short stature, brachycephaly, midface hypoplasia, prognathism, fingertip pads, hoarse voice Alagille 20p12 b Cholestasis, peripheral pulmonic stenosis, vertebral arch defects, posterior embryotoxon, abnormal facies including deep-set eyes, broad forehead, long straight nose, prominent chin, small low-set or malformed ears DiGeorge/velocardiofacial 22q11.2 a Learning disabilities, short stature, overt or submucous cleft palate, velopharyngeal incompetence, (Shprintzen) prominent nose with squared nasal root and narrow alar base, conotruncal cardiac defects, psychiatric disorders in some Monosomy 22q13.3 22q13.3 a Moderate to severe developmental delay, severe expressive speech delay, increased tolerance to pain, hypotonia, normal to accelerated growth, dysplastic toenails, large hands, minor dysmorphic features, including dolicocephaly, ptosis, abnormal ears, pointed chin Kallmann c Xp22.3 b Hypogonadotropic hypogonadism, eunuchoid habitus, anosmia or hyposmia, bimanual synkinesia Ichthyosis (X-linked) c Xp22.3 b Hypertrophic ichthyosis, corneal opacities without impairment of vision a Deletion is frequently visible. b Typically not visible using traditional cytogenetics. c This has been seen in association with several other X-linked disorders when it occurs as part of a contiguous gene syndrome. Structural Chromosome Rearrangements 177
178 Kathleen Kaiser-Rogers and Kathleen Rao Fig. 6. A duplication involving the distal long arm of chromosome 15 [dup(15)(q24q26.3)]. This duplication was initially observed in the bone marrow of a patient with mental retardation and leukemia. By obtaining a peripheral blood karyotype, we were able to demonstrate that the duplication was constitutional and apparently unrelated to his leukemia. Many patients have also been observed with duplications in the proximal long arm of chromosome 15 that encompass the same region that is deleted in Prader–Willi and Angelman syndrome (PWS/ AS) (see Fig. 7). These duplications can be detected by FISH and are associated with a phenotype that includes mental retardation, decreased motor coordination, autism spectrum disorder, and mild to no dysmorphic features (56). The clinical significance of these particular duplications was initially difficult to assess because many affected patients appeared to have phenotypically normal relatives with the same apparent duplication. Molecular studies have now provided us with an explanation for the apparent absence of a genotype–phenotype correlation in these families. With few exceptions, the clinically affected individual(s) within these families carry a maternally derived duplication. In contrast, the duplicated chromosome in the normal relatives of these patients is typically paternally inherited. These data suggest that imprinting within the PWS/AS region is not only responsible for the phenotypic differences we observe with maternal verses paternal deletions but also for the presence or absence of a clinical phenotype in patients with a duplication (see Chapter 19). INVERSIONS Inversions are intrachromosomal rearrangements formed when a chromosome breaks in two places and the material between the two breakpoints reverses orientation. Inversions can be of two types: pericentric or paracentric. In pericentric inversions, the breakpoints lie on either side of the centromere and formation of the inversion often changes the chromosome arm ratio (centromere position) and alters the banding pattern of the chromosome (see Figs. 8, 9, and 11). Paracentric inversions, on the other hand, have both breakpoints on the same side of the centromere or within a single chromosome arm (see Chapter 10, Fig. 5). In paracentric inversions, the centromere position does not change and the only clue to their presence is an alteration in the chromosome banding pattern. Prior to the development of banding techniques, the existence of paracentric inversions was theorized but could not be proven. In those studies in which parents of a proband with an inversion have been karyotyped, the inversion is found in a parent as often as 85–90% of the time (57,58). Most inversions of both types therefore appear to be inherited. Pericentric Inversions Both recurring and unique pericentric inversions have been reported in humans. Some recurring inversions are considered normal variants. In these polymorphic inversions, a block of heterochromatin normally situated in the proximal long arm of the chromosome is inverted into the short arm of the chromosome. Such inversions are found in chromosomes 1, 9 (see Fig. 8), and 16. A second
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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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Page 146 and 147: Autosomal Aneuploidy 131 III Clinic
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Page 180 and 181: Structural Chromosome Rearrangement
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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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284 Linda Marie Randolph Fig. 1. Il
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286 Linda Marie Randolph reported c
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288 Linda Marie Randolph The underl
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290 Linda Marie Randolph Fig. 3. Ul
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296 Linda Marie Randolph Fig. 6. De
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298 Linda Marie Randolph Choroid Pl
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300 Linda Marie Randolph Table 13 C
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302 Linda Marie Randolph Table 14 U
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304 Linda Marie Randolph then that
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306 Table 15 Prenatal Results for R
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308 Linda Marie Randolph Table 17 O
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310 Linda Marie Randolph DNA marker
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312 Linda Marie Randolph XX and XY
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314 Linda Marie Randolph 54. Simpso
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316 Linda Marie Randolph 116. Wang,
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318 Linda Marie Randolph 173. Cicer
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320 Linda Marie Randolph 232. Benn,
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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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