Hello, maybe someone can help me read these this is genetics done when I was age 23yrs old I'm female, and now I'm 28yrs old I also had genetics done right when I was born.
CLINICAL INDICATION:
Developmental delay
.
METHOD OF ANALYSIS:
Fluorescence in situ hybridization (FISH), BAC-microarray comparative
genomic hybridization, G-banding at 550 band level
Diagnostic FISH Probes: DiGeorge/VCFS Region Probe (TUPLE1) & Control
Probe (ARSA)(Vysis)
.
Metaphases counted: 20Cytogenetic Counts
Metaphases analyzed:6 <45 454647
Metaphases karyotyped:2 0 0 191
.
CYTOGENETIC AND/OR MOLECULAR DIAGNOSIS:
For : History #: 2-220-81-40
46,XX
arr cgh 22q11.21(RP11-800B02->RP11-330P17)x1
ish del(22)(q11.2q11.2)(TUPLE1-)
.
NARRATIVE SUMMARY:
.
Standard cytogenetic analysis of G-banded chromosomes from this
peripheral blood specimen showed a modal number of 46 chromosomes
including two X chromosomes. No consistent structural or numerical
abnormalities were detected by either the direct microscopic or
karyotypic analysis.
This analysis does not rule out the possibility of subtle structural
chromosome abnormalities, low frequency chromosome mosaicism or
defects of non-chromosomal etiology.
.
Microarray comparative genomic hybridization showed loss of seven
clones on the long arm of chromosome 22 within band q11.21. Genomic
location of the minimum size deletion of 854 kb is from 17.5 to 18.3
Mb. Genomic location of the maximum size deletion of 6.4 Mb is from
16.1 to 22.5 Mb.
Fluorescence in situ hybridization (FISH) was performed using TUPLE1,
a probe for the DiGeorge/VCFS region on chromosome 22 at band q11.2
and a marker probe (ARSA) for the identification of chromosome 22.
Hybridization of the TUPLE1 probe was seen to only one #22 chromosome
in each of the twenty metaphase cells examined. The results indicate
a deletion of material within the DiGeorge Critical Region (DGCR) at
band q11.2 on chromosome 22 and confirms the microarray finding.
.
The microdeletion on chromosome 22q11.2 is seen in individuals with
DiGeorge syndrome.
Parental FISH testing is recommended to determine whether the
deletion is de novo or familial. Genetic counseling is also
recommended.
.
Array description and disclaimer: The microarray utilized was the
CytoChip version 3.0.2, which contains 5,390 clones (4,991 on
autosomes, 320 on the X and 79 on the Y chromosome), manufactured by
BlueGnome, UK, and analyzed using BlueFuse. Percentage of clones
included in the analysis and standard deviation indicated acceptable
hybridization. This microarray will detect DNA copy number gains and
losses consistent with aneuploidies, deletions and duplications of
the chromosomal loci represented in the array. The microarray will
not detect balanced rearrangements, including reciprocal and
Robertsonian translocations, insertions or inversions, nor will it
detect point mutations. Failure to detect an alteration at any locus
does not rule out the diagnosis of any of the disorders represented
on the microarray. Single feature changes not considered to be
significant are not reported. This assay might not detect mosaicism.
Microarray results should be used in conjunction with other
established cytogenetic or molecular methodologies and or clinical
diagnosis.
This test was developed and its performance characteristics
determined by the Cytogenetics Laboratory at The Kennedy Krieger
Institute as required by the CLIA'88 regulations. It has not been
cleared or approved for specific uses by the U. S. Food and Drug
Administration. Pursuant to the requirements of CLIA'88 this
laboratory has established and verified the test's accuracy and
precision.
The FISH test was developed and its performance characteristics
determined by the Kennedy Krieger Institute Cytogenetics Laboratory.
It has not been cleared or approved by the US Food and Drug
Administration. The FDA has determined that such clearance or
approval is not necessary. This test is used for clinical purposes.
It should not be regarded as investigational or for research. This
laboratory is certified under the Clinical Laboratory Improvement
Amendments of 1988 (CLIA-88) as qualified to perform high complexity
clinical laboratory testing.
METHOD OF ANALYSIS:
Fluorescence in situ hybridization (FISH), BAC-microarray comparative
genomic hybridization, G-banding at 550 band level
Diagnostic FISH Probes: DiGeorge/VCFS Region Probe (TUPLE1) & Control
Probe (ARSA)(Vysis)
.
Metaphases counted: 20Cytogenetic Counts
Metaphases analyzed:6 <45 454647
Metaphases karyotyped:2 0 0 191
.
CYTOGENETIC AND/OR MOLECULAR DIAGNOSIS:
For : History #: 2-220-81-40
46,XX
arr cgh 22q11.21(RP11-800B02->RP11-330P17)x1
ish del(22)(q11.2q11.2)(TUPLE1-)
.
NARRATIVE SUMMARY:
.
Standard cytogenetic analysis of G-banded chromosomes from this
peripheral blood specimen showed a modal number of 46 chromosomes
including two X chromosomes. No consistent structural or numerical
abnormalities were detected by either the direct microscopic or
karyotypic analysis.
This analysis does not rule out the possibility of subtle structural
chromosome abnormalities, low frequency chromosome mosaicism or
defects of non-chromosomal etiology.
.
Microarray comparative genomic hybridization showed loss of seven
clones on the long arm of chromosome 22 within band q11.21. Genomic
location of the minimum size deletion of 854 kb is from 17.5 to 18.3
Mb. Genomic location of the maximum size deletion of 6.4 Mb is from
16.1 to 22.5 Mb.
Fluorescence in situ hybridization (FISH) was performed using TUPLE1,
a probe for the DiGeorge/VCFS region on chromosome 22 at band q11.2
and a marker probe (ARSA) for the identification of chromosome 22.
Hybridization of the TUPLE1 probe was seen to only one #22 chromosome
in each of the twenty metaphase cells examined. The results indicate
a deletion of material within the DiGeorge Critical Region (DGCR) at
band q11.2 on chromosome 22 and confirms the microarray finding.
.
The microdeletion on chromosome 22q11.2 is seen in individuals with
DiGeorge syndrome.
Parental FISH testing is recommended to determine whether the
deletion is de novo or familial. Genetic counseling is also
recommended.
.
Array description and disclaimer: The microarray utilized was the
CytoChip version 3.0.2, which contains 5,390 clones (4,991 on
autosomes, 320 on the X and 79 on the Y chromosome), manufactured by
BlueGnome, UK, and analyzed using BlueFuse. Percentage of clones
included in the analysis and standard deviation indicated acceptable
hybridization. This microarray will detect DNA copy number gains and
losses consistent with aneuploidies, deletions and duplications of
the chromosomal loci represented in the array. The microarray will
not detect balanced rearrangements, including reciprocal and
Robertsonian translocations, insertions or inversions, nor will it
detect point mutations. Failure to detect an alteration at any locus
does not rule out the diagnosis of any of the disorders represented
on the microarray. Single feature changes not considered to be
significant are not reported. This assay might not detect mosaicism.
Microarray results should be used in conjunction with other
established cytogenetic or molecular methodologies and or clinical
diagnosis.
This test was developed and its performance characteristics
determined by the Cytogenetics Laboratory at The Kennedy Krieger
Institute as required by the CLIA'88 regulations. It has not been
cleared or approved for specific uses by the U. S. Food and Drug
Administration. Pursuant to the requirements of CLIA'88 this
laboratory has established and verified the test's accuracy and
precision.
The FISH test was developed and its performance characteristics
determined by the Kennedy Krieger Institute Cytogenetics Laboratory.
It has not been cleared or approved by the US Food and Drug
Administration. The FDA has determined that such clearance or
approval is not necessary. This test is used for clinical purposes.
It should not be regarded as investigational or for research. This
laboratory is certified under the Clinical Laboratory Improvement
Amendments of 1988 (CLIA-88) as qualified to perform high complexity
clinical laboratory testing.
And the one that I was an infant.
'm 46,XX these are my findings
Metaphases Counted - 21.
Metaphases analyzed - 6
Metaphases Karyotyped 3.
Cytogenetic Counts.
<45 45 46 47 >47
2 19 <--- the 2 is underneath the 45 and the 19 is underneath the 46.
(These findings are interpreted as being compatible with the karyotype of a 46,XX individual).
(Everything that was wrong with me from infant to now)
this was everything when i was little - I was also a 38 week borderline SGA Infant.
- Right diaphragmatic hernia.
- Mild dysmorphism.
- Infant of a gestational diabetic I guess my mom was.
- Umbilical hernia.
- Mild micrognathia.
- Genitalia - Slightly hypoplastic labia majora.
- No Thymus.
- Normal sized but rather globular shaped heart.
I also had a hard time feeding my mom told me that, I also had imbalance hormones and electrolytes.
(NOW)
Hypothyroidism 10/23/2006
Obesity, unspecified 01/07/2008
DiGeorge's syndrome 07/13/2009
Depressive disorder, not elsewhere classified 02/05/2007
Mental retardation 10/16/2008
Benign intracranial hypertension 05/19/2011
Papilloedema, unspecified 07/15/2011
Allergic rhinitis, cause unspecified 09/01/2006
Unspecified asthma 04/08/2010
Diaphragmatic hernia without mention of obstruction or gangrene 12/10/2008
Other constipation 09/01/2006
Irregular menstrual cycle 08/21/2009
Other psoriasis 12/10/2008
Congenital anomaly of aortic arch 11/02/2009
Elevated blood pressure reading without diagnosis of hypertension 09/01/2006
Family history of malignant neoplasm of trachea, bronchus, and lung 01/01/1900
Family history of malignant neoplasm of breast 01/01/1900
Routine general medical examination at a health care facility 12/10/2008
Hyperlipidemia 04/19/2013
Diabetes mellitus without complication 04/15/2014
Otitis media of both ears
