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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]inv(7)(p14q21).Positive band
- Khan P M, Wijnen L M M, Wijnen J Th, Grzeschik K H: "Electrophoretic characterization and genetics of human biliverdin reductase (BLVR; EC 1.3.1.24); assignment of BLVR to the p14 to cen region of human chromosome 7 in mouse-human somatic cell hybrids." Biochem. Genet. 21: 123-133, 1983. [PubMed: 6838484]MIM#: 109750Positive band
- Kohler J, Brackertz M, Feige A, Grimm T: Prenatal diagnosis of a complex, balanced rearrangement of chromosomes 7 and 14 in a healthy child with a history of preconceptual X-ray exposure. Prenat. Diag. 6:389-391, 1986. [PubMed: 3774769]46,XY,t(7;14)(7pter -> 7p14::7q22 -> 7p14::14q11 -> 14qter;7qter -> 7q22::14q11 -> 14qter).Aberration: Simple translocationPositive band
- Milunsky J M, Wyandt H E, Milunsky A: Emerging phenotype of duplication (7p): a report of three cases and review of the literature. AJMG 33:364-368, 1989. [PubMed: 2679090]Three sibs, offspring of a father, are reported.46,XY,t(7;15)(7qter -> 7p14::15q25 -> 15qter;15pter -> 15q26::7p14 -> 7pter).&"46,XX and XY,-15,+der(15),t(7;15)(15pter -> 15q26::7p14 -> 7pter)pat."Characteristics include severe/profound psychomotor retardation, dolichocephaly or microbrachycephaly, gaping fontanels and wide sagittal and metopic sutures, hypertelorism, large apparently low-set ears, micrognathia, choanal atresia/stenosis, hyper-extensible joints subject to dislocation, joint contractures, and a high rate of cardiac septal defects.Data on 17 patients are collated.Aberration: Reciprocal translocationChromosomal Aneuploidy: 7p+,15q-Positive band
- Siffroi J P, Benzacken B, Straub B, Le Bourhis C, North M O, Currotti G, Bellec V, Alvarez S, Dadoune J P.: Assisted reproductive technology and complex chromosomal rearrangements: the limits of ICSI. Mol. Hum. Reprod. 3:847-851, 1997. [PubMed: 9395262]46,XY,der(7)t(7;13)(p13;q21)der(9)t(9;13)(p11.2;p12),der(13)t(7;13)(p14;q21)t(9;13)(p11.2;p12)A 48 yo man with oligozoospermia/azoospermia was being evaluated.Aberration: Complex translocationIndex Terms: ICSI
- Tsenghi C, Metaxotou C, Kalpini-Mavrou A, Strataki-Benetou M, Matsaniotis N: Parental chromosome translocations and fetal loss. Obst. Gynecol. 58:456-458, 1981. [PubMed: 7279340]46,XY/46,XY,t(7;9)(p14;q33).Couple No. 4 in Group I with 4 abortions:Aberration: Simple translocationPositive band
- 07p140 - Chromosomal Variation in Man07p140 - Chromosomal Variation in Man
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