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12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region.

Mc Cormack A, Sharpe C, Gregersen N, Smith W, Hayes I, George AM, Love DR - Case Rep Genet (2015)

Bottom Line: To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14.The second patient is only one of a handful without the loss of the HMGA2 gene and shows a much better growth profile, but with absolute macrocephaly.This patient's deletion is unique and hence defines a likely macrocephaly locus that contributes to the general phenotype characterising the 12q14 syndrome.

View Article: PubMed Central - PubMed

Affiliation: Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

ABSTRACT
To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14. These patients usually present with pre- and postnatal growth retardation, and developmental delay. Here we report on two additional patients with both genotype and phenotype differences. Similar to previously published cases, one patient has haploinsufficiency of the HMGA2 gene and shows severe short stature and developmental delay. The second patient is only one of a handful without the loss of the HMGA2 gene and shows a much better growth profile, but with absolute macrocephaly. This patient's deletion is unique and hence defines a likely macrocephaly locus that contributes to the general phenotype characterising the 12q14 syndrome.

No MeSH data available.


Related in: MedlinePlus

Schematic of chromosome 12q14 containing microdeletions. (a) shows an ideogram of chromosome 12. (b) shows the location and extent of the deletions detected in the patients described here and other cases reported in the literature, as well as RefSeq and OMIM genes that lie within 12q14. These graphics were taken from the UCSC genome browser (http://genome.ucsc.edu/).
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fig2: Schematic of chromosome 12q14 containing microdeletions. (a) shows an ideogram of chromosome 12. (b) shows the location and extent of the deletions detected in the patients described here and other cases reported in the literature, as well as RefSeq and OMIM genes that lie within 12q14. These graphics were taken from the UCSC genome browser (http://genome.ucsc.edu/).

Mentions: DNA was extracted from both Patients 1 and 2 with genome-wide copy number analysis determined using an Affymetrix Cytogenetics Whole-Genome 2.7M array and CytoScan 750K Array, respectively, according to the manufacturer's instructions. Regions of copy number change were determined using the Affymetrix Chromosome Analysis Suite software (ChAS) either v.1.0.1 or v.1.2.2 and interpreted with the aid of the UCSC genome browser (http://genome.ucsc.edu/; Human March 2006 (hg18) assembly or February 2009 GRCh37/hg19 assembly), Figure 2.


12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region.

Mc Cormack A, Sharpe C, Gregersen N, Smith W, Hayes I, George AM, Love DR - Case Rep Genet (2015)

Schematic of chromosome 12q14 containing microdeletions. (a) shows an ideogram of chromosome 12. (b) shows the location and extent of the deletions detected in the patients described here and other cases reported in the literature, as well as RefSeq and OMIM genes that lie within 12q14. These graphics were taken from the UCSC genome browser (http://genome.ucsc.edu/).
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4525753&req=5

fig2: Schematic of chromosome 12q14 containing microdeletions. (a) shows an ideogram of chromosome 12. (b) shows the location and extent of the deletions detected in the patients described here and other cases reported in the literature, as well as RefSeq and OMIM genes that lie within 12q14. These graphics were taken from the UCSC genome browser (http://genome.ucsc.edu/).
Mentions: DNA was extracted from both Patients 1 and 2 with genome-wide copy number analysis determined using an Affymetrix Cytogenetics Whole-Genome 2.7M array and CytoScan 750K Array, respectively, according to the manufacturer's instructions. Regions of copy number change were determined using the Affymetrix Chromosome Analysis Suite software (ChAS) either v.1.0.1 or v.1.2.2 and interpreted with the aid of the UCSC genome browser (http://genome.ucsc.edu/; Human March 2006 (hg18) assembly or February 2009 GRCh37/hg19 assembly), Figure 2.

Bottom Line: To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14.The second patient is only one of a handful without the loss of the HMGA2 gene and shows a much better growth profile, but with absolute macrocephaly.This patient's deletion is unique and hence defines a likely macrocephaly locus that contributes to the general phenotype characterising the 12q14 syndrome.

View Article: PubMed Central - PubMed

Affiliation: Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

ABSTRACT
To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14. These patients usually present with pre- and postnatal growth retardation, and developmental delay. Here we report on two additional patients with both genotype and phenotype differences. Similar to previously published cases, one patient has haploinsufficiency of the HMGA2 gene and shows severe short stature and developmental delay. The second patient is only one of a handful without the loss of the HMGA2 gene and shows a much better growth profile, but with absolute macrocephaly. This patient's deletion is unique and hence defines a likely macrocephaly locus that contributes to the general phenotype characterising the 12q14 syndrome.

No MeSH data available.


Related in: MedlinePlus