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Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review
American Journal of Medical Genetics, 07/21/09
Puvabanditsin S et al. – The authors report on a 15–month–old girl with a deletion of the distal short arm of chromosome 1p36.3, partial trisomy of the short arm of chromosome 19p13.3, growth and developmental delay, and multiple anomalies including microcephaly, bifrontal prominence, obtuse frontonasal angle, short columella, hypertelorism, sacral dimples, and a bicuspid pulmonary valve.
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