Prenatal Diagnosis of a Half-Cryptic Translocation Using Chromosome Microdissection

Senger, Gabriele; Chudoba, Iise; Friedrich, Ursula; Tommerup, Niels; Claussen, Uwe; Brøndum‐Nielsen, Karen

doi:10.1002/(sici)1097-0223(199704)17:4<369::aid-pd33>3.0.co;2-s

Cited by 21 publications

(2 citation statements)

References 18 publications

(15 reference statements)

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“…Probes for indirect labeling of chromosomes were done by DOP-PCR (Senger et al 1997) and were a generous gift of Dr. U. Claussen, Institute of Human Genetics, FSU Jena. Probes for indirect labeling of chromosomes were done by DOP-PCR (Senger et al 1997) and were a generous gift of Dr. U. Claussen, Institute of Human Genetics, FSU Jena.…”

Section: Fish Of Human Metaphase Chromosomesmentioning

confidence: 99%

Multiplex FISH and three-dimensional DNA imaging with near infrared femtosecond laser pulses

König

Riemann

Fischer

et al. 2000

Histochem Cell Biol

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We report on a novel technology for multicolor gene and chromosome detection as well as for threedimensional (3D) DNA imaging by multiphoton excitation of multiple FISH fluorophores and DNA stains. Near infrared femtosecond laser pulses at 770 nm were used to simultaneously excite the visible fluorescence of a wide range of FISH fluorophores, such as FITC, DAC, Cy3, Cy5, Cy5.5, rhodamine, spectrum aqua, spectrum green, spectrum orange, Jenfluor, and Texas red as well as of DNA/chromosome stains, for example Hoechst 33342, DAPI, SYBR green, propidium iodide, ethidium homodimer, and Giemsa. In addition to the advantage of using only one excitation wavelength for a variety of fluorophores, multiphoton excitation provided the intrinsic possibility of 3D fluorescence imaging. The technology has been used in human genetics for the diagnosis of numerical chromosome aberrations and microdeletions. In particular, multicolor 3D images of the intranuclear localization of FISH-labeled chromosome territories in interphase nuclei of amniotic fluid cells have been obtained. Using the high light penetration depth at 770 nm, optical sectioning of Hoechst 33342-labeled DNA within living culture cells and within tissue of living tumorbearing mice was performed.

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Section: Fish Of Human Metaphase Chromosomesmentioning

confidence: 99%

Multiplex FISH and three-dimensional DNA imaging with near infrared femtosecond laser pulses

König

Riemann

Fischer

et al. 2000

Histochem Cell Biol

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“…We used a partial chromosome painting probe of the distal p arm of the derivative chromosome 3, der(3)(3pter→? ::2q32→2q34::7q22), obtained by microdissection,13 14 to determine the breakpoint of the insertion into the derivative chromosome 3. The results of this microdissection and reverse painting (fig 6) showed a very distinct signal on chromosome 3 distal to the insertion breakpoint at the telomeric end of der(3p) as well as on 2q32→34, but almost no signal on chromosome 7.…”

Section: Case Reportmentioning

confidence: 99%

Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot

Weimer

Kiechle²,

Wiedemann³

et al. 2000

Journal of Medical Genetics

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We report on a male patient and members of his family with additional material in chromosome 3. This derivative chromosome 3 was transmitted from his mother who had a complex rearrangement between chromosomes 2, 3, and 7. It was possible to delineate her chromosomal rearrangement by microdissection and reverse painting and to exclude these aberrations from being responsible for neonatal deaths and several abortions in this family. Two members of this family suVer from ectrodactyly or split hand/foot malformations (SHFM) of the feet which possibly correlates with the derivative chromosome 7 containing a breakpoint in the SHFM1 critical region involving several homeobox genes. (J Med Genet 2000;37:442-445)

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Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes

et al. 2000

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Cryptic rearrangements involving the telomeres are thought to account for a substantial number of patients with unexplained mental retardation and multiple congenital anomalies, although the exact incidence of these rearrangements is still unclear. With the advent of chromosome-specific telomeric probes and the use of FISH (fluorescence in situ hybridization), it is now possible to identify submicroscopic rearrangements of the distal ends of chromosomes that may otherwise go undetected using conventional cytogenetic studies. We report on a 4 1/2 year-old girl with severe mental retardation and minor anomalies who inherited the unbalanced product of a cryptic translocation involving chromosomes 2 and 17 from her father. The family history was significant for early pregnancy losses, stillbirths, and mental retardation in many other family members, suggesting segregation of a familial translocation. This translocation was detected using chromosome-specific telomere FISH probes, and not visible using conventional cytogenetic methods. Collectively, this case and those previously reported clearly demonstrate the value of a systematic search for cryptic chromosome rearrangements in patients with unexplained mental retardation with previously reported normal chromosome studies; and in particular those with a family history of mental retardation, birth defects, or early pregnancy losses.

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Prenatal Diagnosis of a Half-Cryptic Translocation Using Chromosome Microdissection

Cited by 21 publications

References 18 publications

Multiplex FISH and three-dimensional DNA imaging with near infrared femtosecond laser pulses

Multiplex FISH and three-dimensional DNA imaging with near infrared femtosecond laser pulses

Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot

Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes

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