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Article

Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome.

American journal of medical genetics. Part A - 1 Feb 2006

Kondo Yoko, Mizuno Seiji, Ohara Kei, Nakamura Takeshi, Yamada Kenichiro, Yamamori Shunji, Hayakawa Chiemi, Ishii Takashi, Yamada Yasukazu, Wakamatsu Nobuaki

Abstract excerpt

We report two cases of partial trisomy 21 with clinical features distinct from Down syndrome (DS). These patients presented with moderate mental retardation and short stature, but the typical facial appearance of DS was not observed. Each patient had a similarly sized extra chromosome 21. We performed FISH analysis to examine whether deletions of reported approximately 5 Mb DS critical region (DSCR) might be...

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PMID: 16411203
DOI: 10.1002/ajmg.a.31073

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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