Table 2 |
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|
Published reports on mosaic 22q11.2 microdeletion and mosaic monosomy 22 |
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|
SN |
References |
Case description in brief |
Method used |
Results |
|
|
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|
Mosaic 22q11.2 deletion |
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|
1 |
Chen et al 2004 [7] |
Fetus with tetralogy of Fallot & thymic hypoplasia Father asymptomatic |
Interphase FISH on amniocytes Interphase cells from cord blood Interphase FISH on lymphocytes |
61% deleted interphase cells 43% deleted interphase cells 19% deleted interphase cells |
|
2 |
Consevage et al 1996 [8] |
Female newborn with facial dysmorphism, hypoplastic left heart syndrome & growth retardation |
Metaphase FISH in lymphocytes |
16% metaphases with deletion |
|
3 |
Patel et al 2006 [9] |
Missed abortion at 16 weeks gestation Asymptomatic carrier mother |
Interphase FISH on heart tissue Lymphocytes |
Cells with & without deletions 10% deleted cells |
|
4 |
Hatchwell et al 1998 [12] |
Mother with 2 affected & one unaffected child |
FISH & haplotype analysis |
Germ line mosai-cism in mother |
|
Mosaic monosomy 22 |
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|
5 |
Pinto-Escalante et al 1998 [13] |
Dysmorphism, joint contracture, scleroderma, hypertrichosis, hypertonicity, etc |
Karyotype from lymphocyte culture |
15% monosomic cells |
|
6 |
Verloes A et al 1987 [14] |
A child with mild facial dysmorphism and mentally deficiency |
Karyotype on lymphocytes & fibroblast cells |
10.5% & 8.3% monosomic cells, respectively |
|
7 |
Sabui and Chakrobarty 1997 [15] |
Female child with facial dysmorphism & failure to thrive including developmental delay |
Karyotype on lymphocytes |
70% monosomic cells |
|
8 |
Lewinsky et al 1990 [16] |
Fetal gastroschisis with absent cerebral diastolic flow |
Karyotype |
Mosaic monosomy 22 |
|
9 |
Moghe et al 1981 [17] |
Male child with facial dysmor-phism, psychomotor retardation, hypotonia & syndactyly |
Karyotype on lymphocytes |
25% monosomic cells |
|
Mosaic 22q11.2 deletion & duplication |
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|
10 |
Dempsey et al 2007 [18] |
Twin newborn, one normal & other with cardiac malformation as well as hypocalcemia, later delayed development and recurrent infections |
FISH on metaphase of lymphocytes FISH on metaphase of skin fibroblasts FISH on interphase skin fibroblast cells |
Deletion in 55% cells; duplication in 45% cells Deletion in 86% cells; duplication in 14% cells 80% deleted cells |
|
11 |
Blennow et al. 2008 [19] |
Girl with dysmorphism but no cardiac malformation |
Lymphocytes |
Deletion in 70% cells; duplication in 100% cells |
|
|
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|
Halder et al. Molecular Cytogenetics 2008 1:18 doi:10.1186/1755-8166-1-18 |
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