Modification of IgH PCR clonal analysis by the addition of sucrose and cresol red directly to PCR reaction mixes |
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Authors: | E Hodges SM Boddy S Thomas JL Smith |
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Affiliation: | Centre for Human Genetics, University of Leuven, Belgium. |
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Abstract: | We present the findings of a "new" sublethal MCA syndrome in three siblings, one female and two boys, the only children of healthy, non-consanguineous parents. In addition to prenatal growth retardation and early demise, they presented the same pattern of multiple malformations: relative microcephaly with bird-headed face, microphthalmos/coloboma iris/cloudy corneae, genital anomalies with hypospadias and cryptorchidism in the two males. Associated anomalies included: cardiac defects (2/3), unilateral cleft lip/cleft palate (1/3), anal stenosis (2/3) and unilateral renal agenesis (1/3). |
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