Abstract:
: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.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Lindgren V,McRae A,Dineen R,Saulsberry A,Hoganson G,Schrift Mdoi
10.1002/mgg3.146subject
Has Abstractpub_date
2015-07-01 00:00:00pages
346-53issue
4issn
2324-9269journal_volume
3pub_type
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