A Case of Partial Trisomy 2p23-pter Syndrome with Trisomy 18p Due to a de novo Supernumerary Marker Chromosome

Title
A Case of Partial Trisomy 2p23-pter Syndrome with Trisomy 18p Due to a de novo Supernumerary Marker Chromosome
Author(s)
조희순이종호[이종호]이은실정보찬[정보찬]
Keywords
GENOTYPE-PHENOTYPE CORRELATION; 2P; DUPLICATION; PATIENT; HYBRIDIZATION; TRANSCRIPTION; FISH
Issue Date
201006
Publisher
KOREAN SOC LABORATORY MEDICINE
Citation
KOREAN JOURNAL OF LABORATORY MEDICINE, v.30, no.3, pp.312 - 317
Abstract
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. (Korean J Lab Med 2010;30:312-7)
URI
http://hdl.handle.net/YU.REPOSITORY/22374http://dx.doi.org/10.3343/kjlm.2010.30.3.312
ISSN
1598-6535
Appears in Collections:
의과대학 > 진단검사의학교실 > Articles
의과대학 > 소아청소년과학교실 > Articles
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