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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- Rivera H, Garcia-Esquivel L, Moller M, Cantu J M: Constitutional del(5)(q23.3q31.1). Ann. Genet. 30:91-93, 1987. [PubMed: 3499848]Patient was 4 months old with muscular hypotonia, growth and psychomotor retardation, large low-set ears, hypoplastic genitalia, right hip luxation, and bilateral equinovarus.46,XY,del(5)(q23.3q31.1).Aberration: Interstitial deletionChromosomal Aneuploidy: 5q-Index Terms: Ears ... large,Ears ... low-set,Genitalia ... hypogenitalism,HypotoniaPositive band
- Tzschach A, Krause-Plonka I, Menzel C, Kalscheuer V, Toennies H, Scherthan H, Knoblauch A, Radke M, Ropers H-H, Hoeltzenbein M.: Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences. AJMG DOI=10.1002/ajmg.a.31105; 140A:496-502, 2006. [PubMed: 16470790]46,XY,del(5)(q23.3q31.2)de novo.The 2 3/12 year old boy had a history of failure to thrive, psychomotor retardation, mild facial dysmorphic features, and long and slender fingers and toes.The deletion was about 9.5 Mb.Aberration: Interstitial deletionChromosomal Aneuploidy: 5q-
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- 05q233 - Chromosomal Variation in Man05q233 - Chromosomal Variation in Man
- Lactobacillus plantarum strain DFR 2 16S ribosomal RNA gene, partial sequenceLactobacillus plantarum strain DFR 2 16S ribosomal RNA gene, partial sequencegi|916445031|gb|KT380132.1|Nucleotide
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