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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- Levy B, Dunn T M, Kaffe S, Kardon N, Hirschhorn K.: Clinical applications of comparative genomic hybridization. Genet. in Med. 1:4-12, 1998. [PubMed: 11261428]Case 9:46,X,-X,+der(X).rev ish der(X)t(X;19)(p22.13;q13.1)mat enh(19)(q13.1qter)dim(X)(pterp22.13)The female patient was 9 years old with developmental delay, cleft palate, horseshoe kidney, short stature, and short stubby fingers.Aberration: Reciprocal translocationChromosomal Aneuploidy: Xp-;19q+
- Thomas N S, Sharp A J, Browne C E, Skuse D, Hardie C, Dennis N R.: Xp deletions associated with autism in three females. Hum. Genet. 104:43-48, 1999. [PubMed: 10071191]Case 5, patient ID 97-05314:46,X,del(X)(p22.13-p22.32)de novo.Autism was present.Origin of the deleted X was paternal.Aberration: Interstitial deletionChromosomal Aneuploidy: Xp-
- Waters J J, Campbell P L, Crocker A J M, Campbell C M.: Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum. Genet. 108:318-327, 2001. [PubMed: 11379878]Case P13=46,X,t(X;6)(p22.13;q11.2)mat,t(2;6)(q14;q21)pat.,Case 14=46,X,t(X;6)(p22.13;q11.2).Aberration: Simple translocationNo band
- PubMedLinks to PubMed
- 0Xp2213 - Chromosomal Variation in Man0Xp2213 - Chromosomal Variation in Man
- Model organism or animal sample from Typhlonectes compressicaudaModel organism or animal sample from Typhlonectes compressicaudabiosample
- cytochrome b, partial (mitochondrion) [Cinara pruinosa]cytochrome b, partial (mitochondrion) [Cinara pruinosa]gi|635263282|gb|AHZ66420.1|Protein
- mitochondrial import receptor subunit TOM40B [Mus musculus]mitochondrial import receptor subunit TOM40B [Mus musculus]gi|2318788123|ref|NP_001399675.1|Protein
- HSC04A012 normalized infant brain cDNA Homo sapiens cDNA clone c-04a01 3', mRNA ...HSC04A012 normalized infant brain cDNA Homo sapiens cDNA clone c-04a01 3', mRNA sequencegi|560247|gnl|dbEST|63318|emb|Z3823Nucleotide
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