An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer–Giedion syndrome in an Asian family

Abstract Langer–Giedion syndrome (LGS; MIM 150230 ), also called trichorhinophalangeal syndrome type II (TRPS2), is a contiguous gene syndrome caused by a one-copy deletion in the chromosome 8q23-q24 region, spanning the genes TRPS1 and EXT1 . We identified an LGS family with two affected and two un...

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Veröffentlicht in:	European journal of medical genetics 2013-10, Vol.56 (10), p.561-565
Hauptverfasser:	Min, Byung-Joo, Ko, Jung Min, Seo, Myung-Eui, Choi, Jin-Sun, Oh, Sun Kyung, Jeon, Jane, Kim, EunHyun, Moon, Jennifer E, Choi, In Ho, Lee, Charles, Kim, Ok-Hwa, Cho, Tae-Joon, Park, Woong-Yang
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormal Karyotype Adolescent Array comparative genome hybridization (aCGH) Base Sequence Chromosome Breakage Chromosomes, Human, Pair 8 - genetics Comparative Genomic Hybridization DNA Mutational Analysis Female Fluorescent in situ hybridization (FISH) Genetic Association Studies Humans Interstitial chromosomal insertion Langer-Giedion Syndrome - diagnostic imaging Langer-Giedion Syndrome - genetics Langer–Giedion syndrome (LGS) Male Medical Education Mutagenesis, Insertional Polymorphism, Single Nucleotide Radiography Sequence Deletion Young Adult
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