A Familial Cri-du-Chat/5p Deletion Syndrome Resulted from Rare Maternal Complex Chromosomal Rearrangements (CCRs) and/or Possible Chromosome 5p Chromothripsis
نویسندگان
چکیده
منابع مشابه
A Familial Cri-du-Chat/5p Deletion Syndrome Resulted from Rare Maternal Complex Chromosomal Rearrangements (CCRs) and/or Possible Chromosome 5p Chromothripsis
Cri-du-Chat syndrome (MIM 123450) is a chromosomal syndrome characterized by the characteristic features, including cat-like cry and chromosome 5p deletions. We report a family with five individuals showing chromosomal rearrangements involving 5p, resulting from rare maternal complex chromosomal rearrangements (CCRs), diagnosed post- and pre-natally by comprehensive molecular and cytogenetic an...
متن کاملChromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangements.
Recent genome sequencing studies have identified several classes of complex genomic rearrangements that appear to be derived from a single catastrophic event. These discoveries identify ways that genomes can be altered in single large jumps rather than by many incremental steps. Here we compare and contrast these phenomena and examine the evidence that they arise "all at once." We consider the ...
متن کاملCri du chat syndrome.
Since the description of the first three cases of the 'cri du chat' syndrome by Lejeune, Lafourcade, Berger, Vialatte, Boeswillwald, Seringe, and Turpin (1963), 12 patients have been reported on in whom part of the short arms of a chromosome in the 4-5 group were absent (Lejeune, Lafourcade, de Grouchy, and Berger, 1964b; Punnett, Carpenter, and DiGeorge, 1964; Book, Atkins, and Santesson, 1963...
متن کاملCri du Chat syndrome
The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and m...
متن کاملCri-du-chat syndrome
Three cases of cri du chat syndrome with varying ages of presentation are compared and contrasted to highlight the clinical features and evolution of the phenotype with time.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: PLoS ONE
سال: 2013
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0076985