Abstract:
:We report a de novo heterozygous 5,013,940 bp terminal deletion of chromosome 15q26 in a 13 9/12 -year-old Japanese girl with short stature (-3.9 SD), mild mental retardation, and ventricular septal defect (VSD). This terminal deletion involved IGF1R but not NR2F2, and was associated with an addition of telomere repeat sequences (TTAGGG) at the end of the truncated chromosome. The results provide further support for the notion that terminal deletions are healed by de novo addition of telomere sequences essential for chromosome stability and DNA replication. Furthermore, while growth failure and mental retardation are primarily explained by loss of IGF1R, the occurrence of VSD might suggest the existence of a cardiac anomaly gene, other than the candidate cardiac anomaly gene NR2F2, in the deleted region.
journal_name
Endocr Jjournal_title
Endocrine journalauthors
Dateki S,Fukami M,Tanaka Y,Sasaki G,Moriuchi H,Ogata Tdoi
10.1507/endocrj.k10e-251subject
Has Abstractpub_date
2011-01-01 00:00:00pages
155-9issue
3eissn
0918-8959issn
1348-4540pii
JST.JSTAGE/endocrj/K10E-251journal_volume
58pub_type
杂志文章abstract::There are two local subtypes of extravillous trophoblast (EVT): one is the proliferative phenotype of EVT, which primarily consists of proximal cells and the other is the invasive phenotype of EVT, which is composed mainly of distal cells of cell columns. The mechanism of invasion of EVT to the decidua remains obscure...
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