Chromosome Microarrays Clinical Picture A 6year old boy was

Chromosome Microarrays:

Clinical Picture:

A 6year old boy was seen by clinical geneticist with the following phenotype: Mixed Development Disorder/Delayed milestones. Dysmorphic features: synophrys; Ear pits/Bilaterally over riding toes; Café au lait spots; Low hair line.

Whole blood was sent for microarray (what type of sample tube is required?)

Microarray results

The following data was obtained from the microarray.

Variation

Chromosome Band

Linear Coordinates

Size (kb)

Gain

Chr10q11.22q11.22

10:47,001,065 – 47,117,684

117

Gain

Chr13q34q34

13:111,675,133 – 111,751,620

76

Gain

Chr14q32.33q32.33

14:106,074,223 – 106,736,698

662

Gain

ChrXq28q28

X:152,804,538 – 152,868,194

64

Loss

Chr1q44q44

1:248,753,183 – 248,795,277

42

Loss

Chr7q31.1q31.1

7:111,049,798 – 111,083,053

33

Loss

Chr7p14.1p14.1

7:38,294,087 – 38,339,604

46

Loss

Chr8p11.22p11.22

8:39,250,165 – 39,384,956

135

Loss

Chr17p11.2p11.2

17:19,501,956 – 19,543,162

41

Loss

Chr20p11.1p11.1

20:26,222,569 – 26,305,479

83

Loss

ChrXp21.1p21.1

X:32,683,887 – 32,695,261

11

Loss

ChrXp21.2p21.2

X:29,319,579 – 29,347,245

28

LOH

Chr10p12.31p11.1

10:21,206,478 – 38,987,169

17,781

LOH

Chr12q21.32q22

12:88,170,639 – 95,145,233

6,975

LOH

Chr14q31.3q32.11

14:85,519,006 – 89,894,880

4,376

LOH

ChrXp22.33p11.1

X:2,686,865 – 58,337,890

55,651

LOH

ChrXq11.1q28

X:61,932,503 – 154,976,950

93,044

LOH = Loss of Heterozygosity

Using the following resources (but not necessarily limited to these) determine if any of these findings are clinically significant.

Database Resources:

UCSC Genome Browser on Human Feb. 2009 (GRCh37/hg19) Assembly: http://genome.ucsc.edu/index.html

DECIPHER: https://decipher.sanger.ac.uk/

NCBI Map Viewer: http://www.ncbi.nlm.nih.gov/projects/mapview/maps.cgi?taxid=9606&chr=14

ClinGen https://www.clinicalgenome.org/

ISCA database Search: http://dbsearch.clinicalgenome.org/search/

Database of Genomic Variants: http://dgv.tcag.ca/dgv/app/home

Variation	Chromosome Band	Linear Coordinates	Size (kb)
Gain	Chr10q11.22q11.22	10:47,001,065 – 47,117,684	117
Gain	Chr13q34q34	13:111,675,133 – 111,751,620	76
Gain	Chr14q32.33q32.33	14:106,074,223 – 106,736,698	662
Gain	ChrXq28q28	X:152,804,538 – 152,868,194	64
Loss	Chr1q44q44	1:248,753,183 – 248,795,277	42
Loss	Chr7q31.1q31.1	7:111,049,798 – 111,083,053	33
Loss	Chr7p14.1p14.1	7:38,294,087 – 38,339,604	46
Loss	Chr8p11.22p11.22	8:39,250,165 – 39,384,956	135
Loss	Chr17p11.2p11.2	17:19,501,956 – 19,543,162	41
Loss	Chr20p11.1p11.1	20:26,222,569 – 26,305,479	83
Loss	ChrXp21.1p21.1	X:32,683,887 – 32,695,261	11
Loss	ChrXp21.2p21.2	X:29,319,579 – 29,347,245	28
LOH	Chr10p12.31p11.1	10:21,206,478 – 38,987,169	17,781
LOH	Chr12q21.32q22	12:88,170,639 – 95,145,233	6,975
LOH	Chr14q31.3q32.11	14:85,519,006 – 89,894,880	4,376
LOH	ChrXp22.33p11.1	X:2,686,865 – 58,337,890	55,651
LOH	ChrXq11.1q28	X:61,932,503 – 154,976,950	93,044

Solution

The sample tube will be a simple blood sampling tube containing anticoagulant. It will keep the blood as such with no changes.

The resources finding are helpful in clinical diagnosis of any disorder or syndrome related with the genetics. Various type of diseases which are associated with the gene sequence can be find by mapping the genes with microarray techniques. However these are decoded by the genetist.