We 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. Based on our FISHmapping studies, we estimate the size of the trisomic region of 19p.13.3 to be ∼3.17 Mb, and the region of monosomy for 1p36.3 as 1.3 Mb. This is the first report of a patient with partial trisomy 19p13.3 and partial monosomy p36.3.
All Science Journal Classification (ASJC) codes
- Deletion of chromosome
- Partial monosomy 1p36
- Partial trisomy 19p
- Short arm