Open AccessJournal Article
Molecular characterization of de novo secondary trisomy 13.
Lisa G. Shaffer,Christopher McCaskill,Jin-Yeong Han,Choo Kh,D.M. Cutillo,A.E. Donnenfeld,Lester Weiss,D. L. Van Dyke +7 more
TLDR
FISH using alpha-satellite sequences, rDNA, and a pTRI-6 satellite I sequence specific to the short arm of chromosome 13 showed all four rearrangements to be dicentric and apparently devoid of ribosomal genes.Abstract:
Unbalanced Robertsonian translocations are a significant cause of mental retardation and fetal wastage. The majority of homologous rearrangements of chromosome 21 in Down syndrome have been shown to be isochromosomes. Aside from chromosome 21, very little is known about other acrocentric homologous rearrangements. In this study, four cases of de novo secondary trisomy 13 are presented. FISH using alpha-satellite sequences, rDNA, and a pTRI-6 satellite I sequence specific to the short arm of chromosome 13 showed all four rearrangements to be dicentric an apparently devoid of ribosomal genes. Three of four rearrangements retained the pTRI-6 satellite I sequence. Case 1 was the exception, showing a deletion of this sequence in the rearrangement, although both parental chromosomes 13 had strong positive hybridization signals. Eleven microsatellite markers from chromosome 13 were also used to characterize the rearrangements. Of the four possible outcomes, one maternal Robertsonian translocation, two paternal isochromosomes, and one maternal isochromosomes were observed. A double recombination was observed in the maternally derived rob(13q13q). No recombination events were detected in any isochromosome. The parental origins and molecular chromosomal structure of these cases are compared with previous studies of de novo acrocentric rearrangements. 20 refs., 3 figs., 2 tabs.read more
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Journal ArticleDOI
Molecular Mechanisms for Constitutional Chromosomal Rearrangements in Humans
Lisa G. Shaffer,James R. Lupski +1 more
TL;DR: The identification of genome architectural features conferring susceptibility to rearrangements has been accomplished using methods that enable investigation of regions of the genome that are too small to be visualized by traditional cytogenetics and too large to be resolved by conventional gel electrophoresis.
Journal ArticleDOI
(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features
Andrea M. Peier,Kellie L. McIlwain,Aileen Kenneson,Stephen T. Warren,Richard Paylor,David L. Nelson +5 more
TL;DR: A more thorough evaluation of the Fmr1 knockout phenotype was performed using additional behavioral assays that had not previously been reported for this animal model, and it was observed that the YAC transgene supported production of the human protein (FMRP) which was present at levels 10 to 15 times that of endogenous protein.
Journal ArticleDOI
Detection of low-level mosaicism by array CGH in routine diagnostic specimens.
Blake C. Ballif,Emily A. Rorem,Kyle Sundin,Matt Lincicum,Shannon Gaskin,Justine Coppinger,Catherine D. Kashork,Lisa G. Shaffer,Bassem A. Bejjani +8 more
TL;DR: In this article, the SignatureChip was used for the detection of microdeletions, microduplications, aneuploidy, unbalanced translocations, and subtelomeric and pericentromeric copy number alterations.
Journal ArticleDOI
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.
Heidi A. Heilstedt,Blake C. Ballif,Leslie A. Howard,Richard A. Lewis,Samuel Stal,Catherine D. Kashork,Carlos A. Bacino,Stuart K. Shapira,Lisa G. Shaffer +8 more
TL;DR: This systematic molecular and clinical characterization of monosomy 1p36 is the largest and most comprehensive study of this deletion syndrome to date and reveals many cytogenetically visible, apparent terminal deletions are more complex than anticipated by cytogenetics.
Journal ArticleDOI
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.
Stuart K. Shapira,Christopher McCaskill,Hope Northrup,Aimee S. Spikes,Frederick F.B. Elder,V. Reid Sutton,Julie R. Korenberg,Frank Greenberg,Lisa G. Shaffer +8 more
TL;DR: Clinical examinations revealed that the most common features and medical problems in patients with this deletion syndrome include large anterior fontanelle, motor delay/hypotonia, moderate to severe mental retardation, growth delay, pointed chin, and deep-set eyes.
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