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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- Same entry as in 12p12.3 (Seller et al, 2006).
- Daniel A, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation No. 352.46,XX,-3,+der(3),t(3;10)(p26.3;p11)mat.Aberration: Reciprocal translocationPositive band
- Fahsold R, Rott H D, Claussen U, Schmalenberger B: "Tuberous sclerosis in a child with de novo translocation t(3;12)(p26.3;q23.3)." Clin. Genet. 40:326-328, 1991. [PubMed: 1756605]46,XY,t(3;12)(p26.3;q23.3).The 8 year-old patient had severe MR, epilectic seizures, autistic behaviour, and X-ray CT findings of the skull characteristic for tuberous sclerosis. Parental karyotypes were normal.Aberration: Reciprocal translocationMIM#: 191100Index Terms: Tuberous sclerosisPositive band
- Mascarello J T, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation Nos. 324 and 325.46,XX & XY,t(3;6)(p26.3;q25.3)mat.Aberration: Reciprocal translocationPositive band
- McGaughran J, Aftimos S, Oei P.: Trisomy of 3pter in a patient with Apparent C (Trigonocephaly) syndrome. AJMG 94:311-315, 2000. [PubMed: 11038445]46,XX,ish der(5)t(3;5)(p26.3;p15.33)(3pter+)de novoThe infant had characteristic features of Opitz C syndrome.Aberration: Reciprocal translocationMIM#: 211750Chromosomal Aneuploidy: 3p+Index Terms: Apparent C (Trigonocephaly) syndromeNo band
- Nucaro A L, Meloni M, Pisano T, Melis P, Rossi E, Rossino R, Corona S, Loi M, Achena F, Zuffardi O, Cianchetti C.: Familial translocation t(3;10)(p26.3;p12.31) leading to trisomy 10p12.31->pter and monosomy 3p26.3->pter in seven members. AJMG Part A: 146A: 3242-3245, 2008. [PubMed: 19012344]46,XX or XY,der t(3;10)t(3;10)(p26.3;p12.31)mat or pat.,Proband, V-1=46,XY,der(3)t(3;10),(3qter->3p26.3::10p12.31->10pter)mat.Aberration: Reciprocal translocationChromosomal Aneuploidy: 3p-; 10p+
- Suzumori K, Tanemura M, Oya N, Suzumori N, Kim K C, Ohashi H, Fukushima Y.: Minute chromosomal rearrangements detected prenatally by fluorescence in situ hybridization. Prenat. Diag. 18:725-730, 1998. [PubMed: 9706655]Case 2:46,XX,t(3;12)(p26.3;p13.1).,Fetus=der(3)t(3;12)(p26.3;p13.1).The pregnancy was terminated.FISH was done using the probes cC112-134, and D12Z3.Aberration: Reciprocal translocationChromosomal Aneuploidy: 3p-;12p+
- 03p263 - Chromosomal Variation in Man03p263 - Chromosomal Variation in Man
- Homo sapiens kinesin associated protein 3 (KIFAP3), transcript variant 1, mRNAHomo sapiens kinesin associated protein 3 (KIFAP3), transcript variant 1, mRNAgi|325197180|ref|NM_014970.3|Nucleotide
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