Pericentric inversion inv(7)(p11q21.1): Report on two cases and genotype-phenotype correlations

Cytology and Genetics

Volumn 40, Issue 3, 2006, Pages 45-48

  Vorsanova, S G ^a,b   Iourov, I Y ^a,b   Demidova, I A ^a,b   Kolotii, A D ^a   Soloviev, I V ^b   Yurov, Y B ^a,b  

^a PIROGOV RUSSIAN NATIONAL RESEARCH MEDICAL UNIVERSITY   (Russian Federation)

^b MENTAL HEALTH RESEARCH CENTER   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 7; CHROMOSOME INVERSION; CHROMOSOME MAP; CONGENITAL MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; GENOME IMPRINTING; GENOTYPE; HUMAN; KARYOTYPING; MALE; MENTAL DEFICIENCY; PHENOTYPE; ULTRASTRUCTURE;

ABNORMALITIES; ADOLESCENT; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; DNA; GENOMIC IMPRINTING; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; KARYOTYPING; MALE; MENTAL RETARDATION; PHENOTYPE; RESEARCH SUPPORT, NON-U.S. GOV'T;

EID: 33845747184     PISSN: 05643783     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

1. Kaiser-Rogers K., Rao K. Structural chromosome rearrangements // The principles of clinical cytogenetics / Eds S.L. Gersen, M.B. Keagle. - Totowa New Jersey: Humana Press, 2005. - P. 165-206.
2. Rooney D.E., Czepulkowski B.H. Human cytogenetics. A practical approach. Vol. I. Constitutional analysis. - Oxford: Univ. Press, 1992. - 274 p.
3. Vorsanova S.G., Yurov Y.B., Chernyshov V.N. Chromosome syndromes and anomalies. Classification and nomenclature. - Rostov-on-Don: RSMU, 1999. - 192 p.
4. Soloviev I.V., Yurov Y.B., Vorsanova S.G., Malet P. Microwave activation of fluorescence in situ hybridization: a novel method for rapid chromosome detection and analysis // Focus. - 1994. - 16. - P. 115-116.
5. Yurov Y.B., Soloviev I.V., Vorsanova S.G., Marcais B., Roizes G., Lewis R. High resolution fluorescence in situ hybridization using cyanine and fluorescin dyes: ultra-rapid chromosome detection by directly fluorescently labeled alphoid DNA probes // Hum. Genet. - 1996. - 97. - P. 390-398.
6. Soloviev I.V., Yurov Y.B., Ioannou I., Georghiou A., Hadjimarcou M., Patsalis P.C., Roizes G., Sharonin V.O., Kravets V.S., Vorsanova S.G. Identification and molecular-cytogenetic characterization of large subsets of human plasmid, cosmid, PAC and YAC clones: the search of DNA probes for pre- and postnatal diagnosis // s. Pediat. - 1997. - 7. - P. 529-538.
7. Shrerer S.W., Poorkaj P., Massa H. et al. Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactily // Hum. Mol. Genet. - 1994. - 3. - P. 1345-1354.
8. Kleinjan D.J., van Heyningen V. Position effect in human disease // Hum. Mol. Genet. - 1998. - 7. - P. 1611-1618.