We describe six individuals with microdeletions and microduplications in the distal 22q11.2 region detected by microarray. Five of the abnormalities have breakpoints in the low-copy repeats (LCR) in this region and one patient has an atypical rearrangement. Two of the six patients with abnormalities in the region between LCR22 D-E have hearing loss, which has previously been reported only once in association with these abnormalities. We especially note the behavioral/neuropsychiatric problems, including the severity and early onset, in patients with distal 22q11.2 rearrangements. Our patients add to the genotype-phenotype correlations which are still being generated for these chromosomal anomalies.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521969 | PMC |
| http://dx.doi.org/10.1002/mgg3.146 | DOI Listing |
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- - Chronic myeloid leukaemia (CML) cells feature a small chromosome 22 due to a translocation of most of its q arm to chromosome 9.
- - The researcher used cell hybrids with different parts of chromosome 22 to locate the c-sis oncogene, which is known to be on chromosome 22.
- - Findings indicate that the c-sis oncogene is located between the CML breakpoint (22q112) and 22q13, confirming its translocation to chromosome 9 in CML cells.
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