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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- Barber J C K, Temple I K, Campbell P L, Collinson M N, Campbell C M, Renshaw R M, Dennis N R.: Unbalanced translocation in a mother and her son in one of two 5;10 translocation families. AJMG 62:84-90, 1996. [PubMed: 8779332]Family 2:IV-1:46,XY,der(10)t(5;10)(q35.1;q26.3)mat;,II-3, III-5, and IV-3:46,XX or XY,t(5;10)(q35.1;q26.3)mat.Deep-set eyes and micrognathia and prominent nasal bridge was present.Aberration: Simple translocationChromosomal Aneuploidy: 5q+;10q-.Negative band
- Farrell S A: Balanced reciprocal translocation mosaicism: new cases and a literature review. AJMG 40:345-347, 1991. [PubMed: 1951443]Case 2.Son-46,XY,t(5;18)(q35.1;q21.3)mat.,Mother-mos46,XX,t(5;18)(q35.1;q21.3)[28% ie 5/18 cells- blood].Mother had three miscarriages. The son was investigated because of first trimester miscarriage.Aberration: Reciprocal translocationNegative band
- Goto M, Nishimura G, Nagai T, Yamazawa K, Ogata T.: Familial Klippel-Feil anomaly and t(5;8)(q35.1;p21.1) translocation. AJMG DOI=10.1002/ajmg.a.31198, 2006. [PubMed: 16575895]Three generation of family in which the dominant form of type 1 Klippel-Feil anomaly and translocation is cosegregating.Proband (III-4)=46,XX,t(5;8)(q35.1;p21.1)mat.Aberration: Reciprocal translocationIndex Terms: Klippel-Feil anomaly
- Kleczkowska A, Fryns J P, Van den Berghe H: A distinct multiple congenital anomalies syndrome associated with distal 5q deletion (q35.1qter). Ann. Genet. 36:126-128, 1993. [PubMed: 8215219]Patient G.N.:46,XX,del(5)(q35.1 -> qter)de novo.Aberration: Terminal deletionChromosomal Aneuploidy: 5q-Negative band
- Koolen D A, Herbergs J, Veltman J A, Pfundt R, van Bokhoven H, Stroink H, Sistermans E A, Brunner H G, van Kessel Ad G, de Vries B B A.: Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. J. Hum. Genet. 10.1007/s10038-006-0010-8, 2006. [PubMed: 16865294]46,XY,dup (5)(q35.1, 1.24 Mb)dnThe 19 year old presented with mild MR, delayed motor development, and a mild pyramidal syndrome.Aberration: DuplicationChromosomal Aneuploidy: 5q+Index Terms: Holoprosencephaly (HPE),FBXW11
- Nakayama T, Sakakihara Y, Hanaoka S, Akagi K, Kamoshita S.: Calcification of basal ganglia in a patient with partial trisomy 5q and partial monosomy 18q. Acta Paediat. Japon. 35:340-344, 1993. [PubMed: 8379328]46,XY,-18,+der(18)t(5;18)(q35.1;q23)matThe patient was 12 years old and referred to investigate short stature, obesity, mental retardation and minor anomalies.Aberration: Reciprocal translocationChromosomal Aneuploidy: 5q+;18q-Index Terms: Calcification of basal ganglia
- Pauli R M, Scheib-Wixted S, Cripe L, Izumo S, Sekhon G S.: Ventricular noncompaction and distal chromosome 5q deletion. AJMG 85:419-423, 1999. [PubMed: 10398271]46,XX,del(5)(q35.1q35.3)The patient was 7 1/2 years old with mildly unusual phenotype and complex heart disease including ventricular myocardial noncompaction.Aberration: Interstitial deletionMIM#: 600584Chromosomal Aneuploidy: 5q-Index Terms: Ventricular noncompaction,CSX homeobox gene
- 05q351 - Chromosomal Variation in Man05q351 - Chromosomal Variation in Man
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