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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Inoue K, Osaka H, Thurston V C, Clarke J T R, Yoneyama A, Rosenbarker L, Bird T D, Hodes M E, Shaffer L G, Lupski J R.: Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. AJHG 71:838-853, 2002. [PMC free article: PMC378540] [PubMed: 12297985]Family HOU 542. Patient BAB1379 was a 10 year-old Japanese boy. Healthy sib BAB 1380. Family HOU669. Patient BAB 1684 was also 10 years old. Family PMD1. Patients H142 and H 152 and a carrier female H 150.BAB 1380=46,XY.ish der(19)ins(19;X)(q13.4;q22.2q22.2)(PLP1+)mat.Aberration: Direct insertion between two chromosomesMIM#: 312080Chromosomal Aneuploidy: Xq-, Xq+Index Terms: PLP1,Pelizaeus-Merzbacher (PMD) disease
- 0Xq222 - Chromosomal Variation in Man0Xq222 - Chromosomal Variation in Man
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