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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- Astbury C, Christ L A, Aughton D J, Cassidy S B, Kumar A, Eichler E E, Schwartz S.: Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities. Genet. in Med. 6:81-89, 2004. [PubMed: 15017330]Patient JB:Initial karyotype at low resolution=46,XX,inv(2)(p21q31)de novo.,46,XX,del(2)(q24.3q31.3)de novo.Case ascertained prenatally, abnormal hand, right radius curved and short.The deletion was about 15.3 Mb and there were approximately 66 genes within this region. The breakpoints were in bands 2q31.3 between BAC RP11-553I15 and BAC RP11-253H16; and 2q24.3 between BAC RP11-279B11 and BAC RP11-646I19.Aberration: Interstitial deletionChromosomal Aneuploidy: 2q-
- Barnicoat A J, Abusaad I, Mackie C M, Robards M F.: Two sibs with partial trisomy 2q. AJMG 70:166-170, 1997. [PubMed: 9128937]L.B. (boy) and K.B. (girl):46,XY and XX,der(5)inv ins(5;2)(q22.3;q32.1q24.3) or ,der(5)dir ins(5;2)(q22.1;q24.3q32.1)pat.,Father:46,XY,inv ins(5)(5;2)(q22.3;q32.1q24.3) or,dir ins(5;2)(q22.1;q24.3q32.1).There were facial and developmental anomalies in the sibs.Parental karyotyping was critical in arriving at the correct interpretation.Aberration: Direct insertion between two chromosomesChromosomal Aneuploidy: 2q+
- Bernar J, Sparkes R S, Allensworth S: Interstitial deletion 2q24.3: Case report with high resolution banding. J. Med. Genet. 22:226-228, 1985. [PMC free article: PMC1049430] [PubMed: 4009646]The patient died after 16 months; parental karyotypes were normal. The breakpoints may be 2q242 and 2q31.Aberration: Interstitial deletionPositive band
- Nixon J, Oldridge M, Wilkie A O M, Smith K.: Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation. AJMG 70:324-327, 1997. [PubMed: 9188674]Patient was 9 years old.46,XY,del(2)(q24.3q32.1)de novoThe deletion occurred in the paternally derived chromosome.Aberration: Interstitial deletionChromosomal Aneuploidy: 2q-Index Terms: Craniosynostosis,Ocular coloboma,Limb abnormalities
- Pescucci C, Caselli R, Grosso S, Mencarelli M A, Mari F, Farnetani M A, Piccini B, Artuso R, Bruttini M, Priolo M, Zuffardi O, Gimelli S, Balestri P, Renieri A.: 2q24-q31 deletion: Report of a case and review of the literature. Europ. J. Med. Genet. 50: 21-32, 2007. [PubMed: 17088112]46,XX,del(2)(q24.3q31.1)dnThe patient was 4 years and 2 months old with several dysmorphic featuresThe deletion is about 10 Mb and did not show in prenatal karyotype..Aberration: Interstitial deletionChromosomal Aneuploidy: 2q-
- Schrock E, Veldman T, Padilla-Nash H, Ning Y, Spurbeck J, Jalal S, Shaffer L G, Papenhausen P, Kozma C, Phelan M C, Kjeldsen E, Schonberg S A, O''Brien P, Biesecker L, du Manoir S, Ried T.: Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities. Hum. Genet. 101:255-262, 1997. [PubMed: 9439652]Case No. EK146,XX,t(2;8;15)(q24.3;q23;q26.2)Multiple miscarriages was the mode of ascertainment.Aberration: Complex translocationIndex Terms: SKY
- 02q243 - Chromosomal Variation in Man02q243 - Chromosomal Variation in Man
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