PPT-Case E arr [GRCh37] 15q13.2

3050785330807921 x1 pat 6 month old male with Tetralogy of Fallot Note These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set no single CNV will necessarily cover all evidence types  These are not actual CNVs that have been observed in a laboratory setting  As such please evaluate the coordinates as given regardless of other considerations that may apply in the actual clinical laboratory setting  For example if your CNV is below the size cutoff your laboratory uses on a daily basis please disregard this for the sake of this exercise and evaluate the content within the provided coordinates Assume that the CNV is technically valid. V.A. Schneider, P. Flicek, T. Graves, T. Hubbard & D.M. Church for. the Genome Reference Consortium. http://genomereference.org. @GenomeRef. GRCh37.p13 Assembly Statistics. The GRCh38 human . reference assembly . dn. ). 5-year-old female with developmental delay; . de novo. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. (76738122-76743018) x3 . 4 year old female with developmental delay. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. (1379519_1435227)x1. 2-month-old female with unilateral renal agenesis; inheritance unknown. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. (68797032_68846703) x3 . 35-year-old male with gastric cancer. Additional studies have proven that the duplication is in tandem.. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. 3 year-old female referred for genomic microarray testing due to postnatal growth deficiency, VSD, scoliosis, hand anomalies, hearing loss, craniofacial dysmorphism. CNV is maternally inherited. Our Patient (Case V). 45-year-old male with gait abnormalities. Clinical Information. arr. [GRCh37] 5q23.2 (125989631_126295396) x 3. 45-year-old male referred for gait abnormalities. Inheritance is unknown, parents are deceased. Patient reports father with history of ataxia and tremor.. (8952198_9486394)x3 . dn. 7-year-old male with lissencephaly. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. (12864101_14983330)x1. 2 year old male with developmental delay and seizures. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. (74962064_76662064) x3 mat. 4-year-old female with short stature; mother with short stature. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. (39529437_39545915) x3 mat. 10-year-old female with hearing loss; . maternal family history of hearing loss. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. (175816894_177834521)x3 mat. 6-year-old male with autism; mother unaffected. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. 2-month-old female with Tetralogy of Fallot; inheritance unknown. Clinical information. arr. [GRCh37] 19p13.11(18291753_18311626) x3 . 2-month-old female with Tetralogy of Fallot. Inheritance information not available. (155887333_156224120) x3. Newborn with unspecified brain malformation. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid..