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- Barnes I C S, Maltby E L: Prometaphase chromosome analysis as a routine diagnostic technique. Clin. Genet. 29:378-383, 1986. [PubMed: 3742844]Case No. 7.46,XY,del(10)(p122p1123).Aberration: Interstitial deletionNegative band
- Barry A E, Howman E V, Cancilla M R, Saffery R, Choo K H A.: Sequence analysis of an 80 kb human neocentromere. Hum. Mol. Genet. 8:217-227, 1999. [PubMed: 9931329]
Perry J, Nouri S, La P, Daniel A, Wu Z, Purvis-Smith S, Northrop E, Choo K H A, Slater H R.: Molecular distinction between true centric fission and pericentric duplication-fission. Hum. Genet. 10.1007/s00439-004-1209-4, 2005. [PubMed: 15712016]
Perry J, Nouri S, La P, Daniel A, Wu Z, Purvis-Smith S, Northrop E, Choo K H A, Slater H R.: Molecular distinction between true centric fission and pericentric duplication-fission. Hum. Genet. 10.1007/s00439-004-1209-4; 116:300-310, 2005. [PubMed: 15712016]
Perry J, Nouri S, La P, Daniel A, Wu Z, Purvis-Smith S, Northrop E, Choo K H A, Slater H R.: Molecular distinction between true centric fission and pericentric duplication-fission. Hum. Genet. 10.1007/s00439-004-1209-4, 2005. [PubMed: 15712016]
Voullaire L E, Slater H R, Petrovic V, Choo K H A: A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: activation of a latent centromere? AJHG 52:1153-1163, 1993. [PMC free article: PMC1682274] [PubMed: 7684888]48,XY,-10,+r del(10)(p12.2 -> q23.3),+mar del(10)(pter -> p12.2::q23.3 -> qter),+bisatellited marker.At the age of 4 years and 10 months of age the patient was evaluated for developmental delay.Case 3 (in 2005 report):47,XX,-10,+fis(10)(pter->p10:),+fis(10)(qter->p10).Patient was a 42 year old phenotypically normal female who had two pregnancies with trisomy 10p.Aberration: RI,CFChromosomal Aneuploidy: 10p-,10q-Index Terms: NeocentromereNegative band - Berend S A, Spikes A S, Kashork C D, Wu J M, Daw S C, Scambler P J, Shaffer L G.: Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci. AJMG 91:313-317, 2000. [PubMed: 10766989]46,XX,del(10)(p12.2p14).ish del(10p13p14)(72-A7-,D10S2488+),22q11.2(F5x2)FISH results on 412 patients are reported in thsi study.Aberration: Interstitial deletionMIM#: 188400Chromosomal Aneuploidy: 10p-Index Terms: VCFS/DiGeorge syndrome
- Gottlieb S, Driscoll D A, Punnett H H, Sellinger B, Emanuel B S, Budarf M L.: Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. AJHG 62:495-498, 1998. [PMC free article: PMC1376894] [PubMed: 9463325]
Lipson A, Fagan K, Colley A, Colley P, Sholler G, Issacs D, Oates R K. : Velo-Cardio-Facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13 - implications for cytogenetics and molecular biology. AJMG 65:304-308, 1996. [PubMed: 8923940]Patient CH-95-199 in Gottlieb et al. and P3 in Daw et al.46,XX,del(10)(pter->p13::p12.2->qter)de novo.The 18 month old patient had a posterior cleft palate, perimembranous ventricular septal defect, dyscoordiante swallowing, T-cell subset abnormalities, small ears, maxillary and mandibular hypoplasia, broad nasal bridge, deficient alae nasi, contractures of fingers, and developmental delay.No deletion on 22q was found. This indicates homology of the region on 10p with 22q causing VCF and DG syndromes. N25 FISH probe did not indicate a deletion on 22q.Aberration: Interstitial deletionMIM#: 188400,192430Chromosomal Aneuploidy: 10p-Index Terms: Velo-Cardio-Facial syndromeNegative band - Tuck-Muller C M, Varela M, Li S, Pridjian G, Chen H, Wertelecki W.: A complex, five breakpoint intrachromosomal rearrangement ascertained through two recombinant offspring. AJMG 63:392-395, 1996. [PubMed: 8725792]A family with two children was studied because of mild developmental delay.46,XY,der(10)(pter->p13::q21.2->p12.2::q22.1->q26.3::q22.1->q21.2::p21.2->p13::q26.3->qter).,46,XX and XY,rec(10)der(10)(pter->p13::q21.2->p12.2::q22.1->q26.3).Aberration: PI,REChromosomal Aneuploidy: 10q-;10p-Negative band
- 10p122 - Chromosomal Variation in Man10p122 - Chromosomal Variation in Man
Your browsing activity is empty.
Activity recording is turned off.
See more...