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Institute of Human Genetics
 FRIGE House, Jodhpur Village Road,
Satellite,
Ahmedabad 380 015. Gujarat, INDIA Phone: +91 079 26921414 / +91 079 26921415
Fax: +91 079 26921415
email us
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Molecular cytogenetics
We have developed nineteen (19) Microdeletion assay for detection of Microdeletion syndrome and nine (9) FISH probes for abortus panel. Chromosome location and specific region of each deletion is given in the table. Report of each will take one week time.
Microdeletion Panel
Sr. No. |
Clone No. |
Chromosome region |
Clone sequence |
Syndrome |
1 |
134 |
1p36.33 |
2062347 – 2242269 (NCBI36/hg18) |
1p36 deletion |
2 |
111 |
3q29 |
197875785-198039099 (NCBI36/hg17) |
3q29 micro-deletion |
3 |
72 |
4p16.3 |
1850024-2043467(NCBI36/hg18)
1847457-2040900 (NCBI36/hg17) |
Wolf-Hirchhorn |
4 |
105 |
5p15.33 |
517592-680005 (NCBI36/hg17) |
5p deletion |
5 |
106 |
5p15.33 |
791212-851443 (NCBI36/hg17) |
5p deletion |
6 |
102 |
7q11.23 |
73055980-73238018 (NCBI36/hg17) |
Williams-Beuren syndrome |
7 |
83 |
12q24.13 |
111255201-111349707 (NCBI36/hg17) |
Noonan SyndromePTPN11 |
8 |
84 |
12q24.13 |
111347631-111528725 (NCBI36/hg17) |
9 |
135 |
15q11.2 |
22601976 - 22822028 (NCBI36/hg18) |
Prader-Willi/Angelman syndrome |
10 |
32 |
16p13.3 |
266,994-431,793 (NCBI36/hg17) |
Rubeinstein Taybi |
11 |
93 |
17p11.2 |
17558117-17715827 (NCBI36/hg17) |
Smith-Magenis syndrome |
12 |
115 |
17p13.3 |
2316082-2496238 |
Miller-dicker lissencephaly syndrome |
13 |
95 |
18p11.31 |
3288400-3472372 (NCBI36/hg17) |
TGIF holoprosencephaly 4 |
14 |
66 |
21q22.11q22.12 |
34669619-34683322 |
DSCR1/AML1 |
15 |
26 |
22q11.2 |
19,310,307-19,458,514(NCBI36/hg18) |
Cat eye syndrome |
16 |
75 |
22q11.21 |
17467195-17628564(NCBI36/hg17) |
De-George Syndrome |
17 |
76 |
22q11.21 |
17630846-17818813(NCBI36/hg18) |
18 |
129 |
Xp22.33 |
433105 – 614235 (NCBI36/hg18) |
SHOX |
19 |
131 |
Yp11.31 |
2550466 -2721357 (NCBI36/hg18) |
SRY sequence |
Abortus study by FISH:
Cytogenetic study is frequently required from product of conceptus and in nearly 20% cases culture fails to grow due to contamination or cell death. Hence based on nearly 5000 cases we have observed common anomalies obtained in POC and developed FISH probes for the same. Whenever culture fails to grow we provide FISH study to find out common chromosomal anomalies observed in majority of the POC.
Abortus Panel |
Sr. No. |
Clone No |
Chromosome Position |
Sequence |
1 |
52 |
13q14.2 |
49,266,776-49,444,926(NCBI36/hg17) |
2 |
11 |
15q26.3 |
100,092,334-100,219,143(NCBI36/hg18) |
3 |
90 |
16q22.1 |
65322062-65492747 (NCBI36/hg17) |
4 |
4 |
18q11.1 - 18q11.2 |
17,274,439-17,431,001(NCBI36/hg17) |
5 |
65 |
19p13.3p13.2 |
6,726,912-6,917,544 (NCBI36/hg17) |
6 |
97 |
20p13 |
151432-363097 (NCBI36/hg17) |
7 |
74 |
21q22.12 |
34958333-35122861(NCBI36/hg17) |
8 |
130 |
Xp22.32 - Xp22.31 |
5704698 – 6023106(NCBI36/hg18) |
9 |
121 |
Yq11.1 - Yq11.21 |
12376396 – 12585190 (NCBI36/hg18) |
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