| |
Mertens et al., 1987 [2] |
Chen et al., 2008 [1] |
Hirshfeld et al., 2001 [6] |
Machlitt et al., 2005 [3] |
Patel et al., 2009 [4] |
Sifakis et al., 2014 [5] | Present case |
| Karyotype |
46,XY,inv dup(1)(q11q22) | 46,XY,dir dup(1)(pterq25::q12qpter) | 46,XX,dir dup(1)(pterq23::q12q23::q23qter)/46 XX | 46,XY,der(1)(1qter q21::1p36.3qter) | 46,XY,+1,der(1;22)(q10;q10) 25/46,XY65 | 46,XX,der(1)(pterq31::q31q12::q31qter) | 47,XX,+der(1)(::q10q23.3::)4/46,XX12.ish der(1)(CEP1+,wcp1+) |
| % mosaic | | | | Amniotic fluid, 100% | 27% | 100% | Blood, 25% |
| Age of Dx | Delivery | Delivery | Delivery | Prenatal | Postmortem | Prenatal | 9 months |
| GA (wk) | 37 | Term | Term | 23 | 39 | 22,4 | Term |
| BW (g/percentile) | 2800/P25 | 3260/P25 | 3100/P25 | 440/P12 | 3300/P25 | 501/P12 | 3120/P25 |
| Sex | | Male | Female | Male | Male | Female | Female |
| Skull anomalies | + | + | − | + | − | − | + |
| Brain anomalies | + | + | + | + | + | + | − |
| Abnormal palate | + | + | + | u | + | − | − |
| Micro/retrognathia | + | + | + | + | + | + | + |
| Low set/malrotated ears | + | + | + | + | + | + | − |
| Eye anomalies | − | − | − | + | u | − | − |
| Cardiovascular anomalies | | + | + | + | | − | − |
| Respiratory anomalies | | + | − | − | | − | − |
| Gastrointestinal anomalies | + | + | + | + | | + | − |
| Kidney anomalies | − | − | + | + | | + | − |
| Genital anomalies | − | + | − | + | | − | − |
| Hand/foot anomalies | + | + | + | + | | + | + |
| Others | Excessive neck skin | | Selective deficiency antibody response to polysaccharide antigens | SUA | | 13 pair ribs, defect vertebra bodies, and collagenopathy | HbSC |
| Survival | 11 months | Dead 2 weeks | 15 yr | TOP | | TOP | 2 years |
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