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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- Aalfs C M, Hoovers J M N, Nieste-Otter M A, Mannens M M A M, Hennekam R C M, Leschot N J.: Further delineation of the partial proximal trisomy 10q syndrome. J. Med. Genet. 32: 968-971, 1995. [PMC free article: PMC1051779] [PubMed: 8825926]Patient was 3 years old.46,XX,dup(10(q11.2q22.3)de novo.The syndrome characteristics appear to be mild to moderate developmental delay, possible growth retardation, microcephaly, prominent forehead, small and deep set eyes, epicanthus, upturned nose, bow shaped mouth, micrognathia, thick and flat helices of the ears, and long, slender limbs.Aberration: DuplicationChromosomal Aneuploidy: 10q+Negative band
- Boon C, Markello T, Jackson-Cook C, Pandya A.: Partial trisomy 10 mosaicism with cutaneous manifestations: report of a case and review of the literature. Clin. Genet. 50:417-421, 1996. [PubMed: 9007335]mos46,XX/47,XX,+del(10)(q11.2q23.2)(10% in fibroblasts and in lymphocytes only normal cells were found).The infant had cleft lip, mild hirsutism, streaks of hypopigmentation approximating the lines of Blashko.Aberration: Interstitial deletionMIM#: 146150Chromosomal Aneuploidy: 10q-
- Fewtrell M S, Tam P K H, Thomson A H, Fitchett M, Currie J, Huson S M, Mulligan L M: Hirschsprung''s disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies? J. Med. Genet. 31:325-327, 1994. [PMC free article: PMC1049807] [PubMed: 7915329]46,XX,del(10)(q11.2q21.2)de novo.Patient was 3 months old.Aberration: Interstitial deletionMIM#: 142623Chromosomal Aneuploidy: 10q-Index Terms: Hirschsprung diseaseNegative band
- Fryns J P, Kleczkowska A, Igodt-Ameye L, Van den Berghe H: Proximal duplication of the long arm of chromosome 10 (10q11.2 to 10q22): a distinct clinical entity. Clin. Genet. 32:61-65, 1987. [PubMed: 3502695]46,XX,dir dup(10q)(pter -> q22::q11.2 -> q22::q22 -> qter).Aberration: Direct insertion between two chromosomesChromosomal Aneuploidy: 10q+Negative band
- Holden J J A, MacDonald E A: Interstitial deletion of the long arm of chromosome 10: del(10)(q11.2q21). AJMG 20:245-248, 1985. [PubMed: 2579554]Patient K.S.46,XX,del(10)(q11.2q21).&Parental karyotypes were normal.Aberration: Interstitial deletionNegative band
- Mann J, Wcislo K, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation No. 1764.46,XX,inv(10)(q11.2q21.1)mat.Aberration: Inversion paracentricNegative band
- Meschede D, Lemcke B, Exeler J R, De Geyter Ch, Behre H M, Nieschlag E, Horst J.: Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection- prevalence, types, sex distribution and reproductive relevance. Hum. Reprod. 13:576-582, 1998. [PubMed: 9572415]Case No. 9:46,XX,t(10;14)(q11.2;q32.1)The 30 yo carrier female was diagnosed with endometriosis; and both had infertility problems.Aberration: Reciprocal translocationIndex Terms: Endometriosis
- Mononen T, Sharp A, Laakso M, Meltoranta R-L, Valve-Dietz A-K, Heinonen K.: Partial trisomy 10q with mild phenotype caused by an unbalanced X;10 translocation. J. Med. Genet. 40:e61, 2003. [PMC free article: PMC1735480] [PubMed: 12746415]46,X,der(X)t(X;10)(q21.2;q11.2).The patient was 10 years old.Aberration: Simple translocationChromosomal Aneuploidy: 10q+
- Shapiro S D, Hansen K L, Pasztor L M, DiLiberti J H, Jorgenson R J, Young R S, Moore C M: Deletions of the long arm of chromosome 10. AJMG 20:181-196, 1985. [PubMed: 3970071]Patient 6.45,XX,ter rea(10;13)(10pter -> 10q11.2::10q22.1 -> 10q26.3::13p12 -> 13qter).&Parental karyotypes were normal.Aberration: Terminal rearrangementsNegative band
- Wang J-C C, Mamunes P, Kou S-Y, Schmidt J, Mao R, Hsu W-T.: Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16. AJMG 80:418-422, 1998. [PubMed: 9856575]Mother=mos46,XX,t(10;16)(q11.2;q11.1)[29]/46,XX[25].,Son=46,XY,t(10;16)(q11.2;q11.1)mat[22]/47,idem,+16[4].,Trisomy 16 cells confined to the placenta. upd(16)mat.Case ascertained prenatally since mother was 35 years old. IUGR was noted . Mild dysmorphism noted at 7 month''s evaluation.Aberration: Whole-arm translocationsChromosomal Aneuploidy: 16+Index Terms: Centromeric DNA break
- Same entry as in 02q310,04q270 (Warburton D, 1991).
- Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]46,XY,inv(10)(q11.2q24).Aberration: Inversion paracentricNegative band
- Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]46,XY,t(10;21)(q11.2;q11.2).Aberration: Reciprocal translocationNegative band
- 10q112 - Chromosomal Variation in Man10q112 - Chromosomal Variation in Man
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