A case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome.
Partial trisomy 2p is a rare but relatively well-defined syndrome with distinctive clinical features, including marked psychomotor delay, dysmorphic face, and congenital heart disease. The phenotype of trisomy 18p is variable, from normal appearance to moderate mental retardation. Most cases of trisomy 2p and trisomy 18p result from the inheritance of an unbalanced segregant from a balanced parental translocation or due to de novo duplication. Here, we present the first report of a combined partial trisomy 2p and trisomy 18p due to a supernumerary marker chromosome (SMC). The final karyotype of the patient was 47,XX,+der(18)t(2;18)(p23.1;q11.1)[22]/46,XX[8]. The patient had typical dysmorphic features of partial trisomy 2p23-pter syndrome and congenital heart disease. SMCs are remarkably variable in euchromatic DNA content and mosaicism level. The precise identification of the origin and composition of SMCs is essential for genotype-phenotype correlation and genetic counseling.
Lee
Jong Ho
JH
Department of Laboratory Medicine, Yeungnam University College of Medicine, Daegu, Korea.
Cho
Hee Soon
HS
Lee
Eun Sil
ES
Jung
Bo Chan
BC
D000015:Abnormalities, Multiple / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18; D002889:Chromosomes, Human, Pair 2; D020732:Cytogenetic Analysis; D005260:Female; D005817:Genetic Counseling; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D013577:Syndrome; D014314:Trisomy / Q000175:diagnosis