Individuals who carry an extra copy of 7q11.23, the genetic region on chromosome 7 that is missing in those with Williams syndrome, have language impairments and other autism-like social difficulties.
Conclusion: Chromosome 7 insertional translocation is a possible autosomal dominant inherited trait and may cause missed abortion. Results:
All others were ascertained through a phenotypically abnormal proband.
Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7.The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Le chromosome remaniéest appelédérivé(der), il porte le numéro du chromosome dont il possède le centromère. Associated symptoms and findings may be variable and may depend on the specific size and location of the deleted segment of 7p. It therefore provides a good cytogenetic marker. Farrell SA(1), Chow G. Author information: (1)Division of Genetics, Credit Valley Hospital, Mississauga, Ontario, Canada.
(1; 7) (p32; q32.35). Inverted insertion of chromosome 7q and ectrodactyly Inverted insertion of chromosome 7q and ectrodactyly Naritomi, Kenji; Izumikawa, Yoshinori; Tohma, Takaya; Hirayama, Kiyotake 1994-03-15 00:00:00 An inverted insertion of a segment 7q22–q34 into 3q21 was found in a mentally normal male infant with ectrodactyly of a hand and the feet.
@article{osti_134587, title = {Partial trisomy 5q resulting from chromosome 7 insertion: An expansion of the phenotype}, author = {Fries, M H and Reilly, P A and Williams, T C}, abstractNote = {Partial trisomy 5q has been categorized into three separate phenotypes; however, a distinctive phenotype has not been described for duplications spanning 5q23-q35. It therefore provides a good cytogenetic marker.
The proximal and distal chromosome 7 breakpoints lie at the junction of G bands 7B-C and 7E2 on the physical map, and between the ruby-2
The first two breaks release an interstitial segment of chromosome, which is then inserted into the gap created by the third break. As the insertion comprises about one-third of chromosome 7, the rearranged X is the longest in the chromosome complement (14% longer than the longest normal chromosome, chromosome 1).