A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features
Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs) have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous reco...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2014-01-01
|
| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2014/658570 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832550333490921472 |
|---|---|
| author | Adrian Mc Cormack Juliet Taylor Leah Te Weehi Donald R. Love Alice M. George |
| author_facet | Adrian Mc Cormack Juliet Taylor Leah Te Weehi Donald R. Love Alice M. George |
| author_sort | Adrian Mc Cormack |
| collection | DOAJ |
| description | Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs) have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous recombination to take place. Here, we report a case of a 7.5-year-old girl who manifests microcephaly, developmental delay, and mild dysmorphic features. Microarray analysis identified a microduplication in chromosome 17q21.31, which encompasses the CRHR1, MAPT, and KANSL1 genes, as well as a microdeletion in chromosome 7q31.33 that is localised within the GRM8 gene. To our knowledge this is one of only a few cases of 17q21.31 microduplication. The clinical phenotype of patients with this microduplication is milder than of those carrying the reciprocal microdeletions, and suggests that the lower incidence of the former compared to the latter may be due to underascertainment. |
| format | Article |
| id | doaj-art-173d7cabf7524d85b11685a367b7f11c |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-173d7cabf7524d85b11685a367b7f11c2025-02-03T06:07:00ZengWileyCase Reports in Genetics2090-65442090-65522014-01-01201410.1155/2014/658570658570A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic FeaturesAdrian Mc Cormack0Juliet Taylor1Leah Te Weehi2Donald R. Love3Alice M. George4Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandGenetic Health Service New Zealand-Northern Hub, Auckland City Hospital, Private Bag 92024, Auckland 1142, New ZealandDiagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandDiagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandDiagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandConcurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs) have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous recombination to take place. Here, we report a case of a 7.5-year-old girl who manifests microcephaly, developmental delay, and mild dysmorphic features. Microarray analysis identified a microduplication in chromosome 17q21.31, which encompasses the CRHR1, MAPT, and KANSL1 genes, as well as a microdeletion in chromosome 7q31.33 that is localised within the GRM8 gene. To our knowledge this is one of only a few cases of 17q21.31 microduplication. The clinical phenotype of patients with this microduplication is milder than of those carrying the reciprocal microdeletions, and suggests that the lower incidence of the former compared to the latter may be due to underascertainment.http://dx.doi.org/10.1155/2014/658570 |
| spellingShingle | Adrian Mc Cormack Juliet Taylor Leah Te Weehi Donald R. Love Alice M. George A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features Case Reports in Genetics |
| title | A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features |
| title_full | A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features |
| title_fullStr | A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features |
| title_full_unstemmed | A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features |
| title_short | A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features |
| title_sort | case of 17q21 31 microduplication and 7q31 33 microdeletion associated with developmental delay microcephaly and mild dysmorphic features |
| url | http://dx.doi.org/10.1155/2014/658570 |
| work_keys_str_mv | AT adrianmccormack acaseof17q2131microduplicationand7q3133microdeletionassociatedwithdevelopmentaldelaymicrocephalyandmilddysmorphicfeatures AT juliettaylor acaseof17q2131microduplicationand7q3133microdeletionassociatedwithdevelopmentaldelaymicrocephalyandmilddysmorphicfeatures AT leahteweehi acaseof17q2131microduplicationand7q3133microdeletionassociatedwithdevelopmentaldelaymicrocephalyandmilddysmorphicfeatures AT donaldrlove acaseof17q2131microduplicationand7q3133microdeletionassociatedwithdevelopmentaldelaymicrocephalyandmilddysmorphicfeatures AT alicemgeorge acaseof17q2131microduplicationand7q3133microdeletionassociatedwithdevelopmentaldelaymicrocephalyandmilddysmorphicfeatures AT adrianmccormack caseof17q2131microduplicationand7q3133microdeletionassociatedwithdevelopmentaldelaymicrocephalyandmilddysmorphicfeatures AT juliettaylor caseof17q2131microduplicationand7q3133microdeletionassociatedwithdevelopmentaldelaymicrocephalyandmilddysmorphicfeatures AT leahteweehi caseof17q2131microduplicationand7q3133microdeletionassociatedwithdevelopmentaldelaymicrocephalyandmilddysmorphicfeatures AT donaldrlove caseof17q2131microduplicationand7q3133microdeletionassociatedwithdevelopmentaldelaymicrocephalyandmilddysmorphicfeatures AT alicemgeorge caseof17q2131microduplicationand7q3133microdeletionassociatedwithdevelopmentaldelaymicrocephalyandmilddysmorphicfeatures |