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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- Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]t(4;11)(q13;p15).Aberration: Reciprocal translocationPositive band
- Crandall B, 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. 442.46,XX,t(4;9)(q13;q32)mat.Aberration: Reciprocal translocationPositive band
- Dallapiccola B, Santoro L, Trabace S, Ramenghi M, Mastroiacovo P P, Gandini E: "Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8)(q13;q213)." Hum. Genet. 38:125-130, 1977. [PubMed: 908558]Case I.M. 000074 in this report. Patient was mentally retarded and dysmorphic and is thought to be monosomic for region 8q213 to 8qter.46,XX,t(4;8)(q13;q213)(4pter -> 4q13:;8pter -> 8q213::4q13 -> 4qter).&GSR activity was normal.Aberration: Simple translocationPositive band
- McDermott A, Cain R, Howell R T: Partial monosomy of long arm of chromosome 4 due to interstitial deletion. Hum. Genet. 53:305-307, 1980. [PubMed: 7372333]A 12 week patient with multiple congenital anomalies is reported with this de novo deletion.&46,XX,del(4)(pter -> q13::q22 -> qter).Aberration: Interstitial deletionPositive band
- Migliori M V, Pettinari A, Ciaschini A M, Piermattei P, Pigliapoco F, Discepoli G.: Prenatal diagnosis of an extra der(4) resulting from a complex maternal chromosome translocation. Prenat. Diag. 24:290-292, 2004. [PubMed: 15065104]Mother=46,XX,t(4;10;11)(4pter->4q13::10p14->10pter;10qter->10p14::11q21->11qter;11pter->11q21::4q13->4qter).,Fetus=47,XY,+der(4)(4pter->4q13::10p14->10pter)mat.Mother came in because of recurrent miscarriages. Pregnancy was terminated.Aberration: Complex translocationChromosomal Aneuploidy: 4p+;4q+;10p+
- Nielsen K B, Dyggve H V, Knudsen H, Olsen J: A chromosomal survey of an institution for the mentally retarded. Danish Med. Bull. 30:5-13, 1983. [PubMed: 6831943]Case No. 256-74.46,XX,t(4;7;14)(q13;q22;q21).Aberration: Complex translocationPositive band
- Sachs E S, Jahoda M G J, van Hemel J O, Hoogeboom A J M, Sandkuyl L A: Chromosome studies of 500 couples with two or more abortions. Obst. Gynecol. 65:375-378, 1985. [PubMed: 3974963]46,XX,t(4;22)(q13;q11).Aberration: Reciprocal translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)Positive band
- Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]46,XY,t(4;11)(q13;p15).Aberration: Reciprocal translocationPositive band
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