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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- Faivre L, Van Kien P K, Callier P, Ruiz-Pallares N, Baudoin C, Plancke A, Wolf J-E, Thauvin-Robinet C, Durand E, Minot D, Dulieu V, Metaizeau J-D, Leheup B, Coron F, Bidot S, Huet F, Jondeau G, Boileau C, Claustres M, Mugneret F.: de novo 15q21.1q21,1 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome. Europ. J. Med. Genet. 53: 208-212, 2010. [PubMed: 20478419]46,XX.ish del(15)(q21.1q21.2) 2.97 MbPatient was 16 years old.Aberration: Interstitial deletionChromosomal Aneuploidy: 15q-Index Terms: Marfan syndrome
- Milewicz D M, Duvic M: Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the Fibrillin gene on chromosome 15. AJHG 54:447-453, 1994. [PMC free article: PMC1918129] [PubMed: 8116614]Patient earlier reported by Gross et al (1989) in Pediatrics 84:83-89.3-bp insertion betweeen nucleotides 480-481 or 481-482 of the fibrillin DNA inserting a cystein between amino acids 160 and 161 was identified.Aberration: Direct insertions within a chromosomeMIM#: 134797Chromosomal Aneuploidy: 15q+Index Terms: Marfan syndrome ... severe neonatalPositive band
- 15q211 - Chromosomal Variation in Man15q211 - Chromosomal Variation in Man
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