NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
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- Groen S E, Drewes J G, de Boer E G, Hoovers J M N, Hennekam R C M.: Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6. AJMG 80:448-453, 1998. [PubMed: 9880207]Patient 1, individual I-7 died at the age of 2 months of unknown cause.46,XY,der(5)t(5;6)(5pter->5q35.2::6q27->6qter)mat.Dandy-Walker anomaly, retinitis pigmentosa was present, hence Joubert syndrome was suspected.Family is of Hindustani extraction. Several other individuals in this 3 generation kindred died early and are suspected to have had chromosomal unbalance.Patient 2, individual I-8 in the three generation pedigree was six years old.46,XX,der(6)t(5;6)(6pter->6q27::5q35.2->5qter)mat.The 7 year old has a mental age of 3 with seizures. She has hypertelorism, strabismus, prominent and broad nasal bridge, and relatively thin upper lip.Aberration: Reciprocal translocationMIM#: 220200Chromosomal Aneuploidy: 5q- and +;6q- and +Index Terms: Dandy Walker anomaly, Joubert syndrome, retinitis pigmentosa
- Guichet A, Briault S, Moraine Cl.: High resolution chromosome analysis and in situ hybridization on amniotic fluid for diagnosis of a cryptic translocation. Prenat. Diag. 18:399-403, 1998. [PubMed: 9602490]Father=46,XY,t(5;13)(q35.2;q34).ish(wcp13-,D13S261+;,wcp5-,D5S498+).,Daughter=46,XX,der(13)t(5;13)(13pter->13q34::5q35.2->5qter)pat.,Fetus=46,der(5)der(13)t(5;13)pat.The daughter was mentally retarded. Father was 28 years old and the mother was 22.Aberration: Reciprocal translocationIndex Terms: Translocation cryptic
- Lai M M R, Scriven P N, Ball C, Berry A C: Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism. J. Med. Genet. 29:586-588, 1992. [PMC free article: PMC1016069] [PubMed: 1518027]Proband:46,XX,der(10)t(5;10)(q35.2;p13)mat.,Mother:46,XX,t(5;10)(q35.2;p13).Next pregnancy resulted in a normal female child.Aberration: Reciprocal translocationMIM#: 146200Chromosomal Aneuploidy: 5q+;10p-Index Terms: Hypoparathyroidism
- Levy B, Gershin I F, Desnick R J, Babu A, Gelb B D, Hirschhorn K, Cotter P D.: Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridization. Cytogenet. Cell Genet. 76:68-71, 1997. [PubMed: 9154131]46,XX,der(5)t(5;11)(q35.2;q23.2)de novo.ish der(5)(wcp11+).The newborn had MCA.Aberration: Simple translocationChromosomal Aneuploidy: 11q+No band
- 05q352 - Chromosomal Variation in Man05q352 - Chromosomal Variation in Man
Your browsing activity is empty.
Activity recording is turned off.
See more...