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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- Dignan P, Krouskop L, 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. 7646,XY,t(1;8)(q31.2;p23.2).Aberration: Reciprocal translocationNegative band
- Ikeuchi T, Motohashi N, Yamamoto K, Kuroda T: "Refined determination of breakpoints of the translocation t(1;7) associated with signs of the HMC syndrome." Jpn. J. Hum. Genet. 36:155-158, 1991. [PubMed: 1920914]
Motohashi N, Kuroda T, Ikeuchi T: "A case report: hypertelorism, microtia, cleft palate with a de novo balanced chromosome translocation, t(1q-;7p+)." Cong. Anom. 25:181-190, 1985.46,XY,t(1;7)(q31.2;p15.1-p15.3),?del(7)(p15.2).&"46,XY,rcp(1;7)(q3107;p15)."The patient was found to have the syndrome of hypertelorism, microtia, facial clefting and was referred at age 7 months for orthodontic work-up.Aberration: Reciprocal translocationMIM#: 239800Index Terms: Hypertelorism,Microtia,Cleft lip/palateNegative band - Youings S, Ellis K, Ennis S, Barber J, Jacobs P.: A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. AJMG DOI=10.1002/ajmg.a.20553; 126A:46-60 , 2003 and 2004. [PubMed: 15039973]Lab ID DD8802279:46,XX,t(1;10)(q31.2;q22.2)mat.Case ascertained during prenatal diagnosis.Aberration: Reciprocal translocation
- 01q312 - Chromosomal Variation in Man01q312 - Chromosomal Variation in Man
- Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 4, mRNAHomo sapiens HNF1 homeobox B (HNF1B), transcript variant 4, mRNAgi|2288627441|ref|NM_001411100.1|Nucleotide
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