Table 2 Published reports on mosaic 22q11.2 microdeletion and mosaic monosomy 22
From: Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases
SN | References | Case description in brief | Method used | Results |
|---|---|---|---|---|
| Â | Â | Mosaic 22q11.2 deletion | Â | Â |
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 |
| Â | Â | Mosaic monosomy 22 | Â | Â |
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 |
| Â | Â | Mosaic 22q11.2 deletion & duplication | Â | Â |
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 |