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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-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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08p220

8p22
  • Same entry as in 04p15.3 (Kirchhoff et al, 2001).
  • Al-Kouatly H B, Chasen S T, Gilbert F, Ahner R, Alonso L M, Chervenak F A.: Correlation between rare chromosomal abnormalities and prenatal ultrasound findings. AJMG 10.1002/ajmg.10130;107:197-200, 2002. [PubMed: 11807899]
    Case 7=46,XY,del(8)(p22)de novo.
    Ultrasound showed thickened nuchal fold, bilateral moderate hydronephrosis. Normal liveborn but post-natal follow-up is not available.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 8p-
    Index Terms: Hydronephrosis
  • Ball S, 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. 1270.
    46,XY,inv(8)(p22q13)pat.
    Aberration: Inversion pericentric
    Positive band
  • Biggio B, Philip T, Charrin C, Rivat L, Philip I, Jouvenceaux A, Hermier M: Exclusion de MNSs, kidd et Gm de l''extremite du bras court du chromosome 8. J. Genet. Hum. 27:253-258, 1979. [PubMed: 536740]
    Patient Aicha (observation No. 18785 Prof. Francois), in this report.
    46,XX,del(8)(qter -> p22:)der inv(9)(p11q13)mat.
    Aberration: Terminal deletion
    Positive band
  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    t(8;11)(p22;q25); t(8;16)(p22;q11).
    Aberration: Reciprocal translocation
    Positive band
  • Brandriff B, Gordon L, Ashworth L K, Littman V A, Watchmaker G, Carrano A V: Cytogenetics of human sperm: meiotic segregation in two translocation carriers. AJHG 38:197-208, 1986. [PMC free article: PMC1684758] [PubMed: 3946422]
    Family of donor T. A.
    46,XY,t(8;15)(p22;q21).&"46,XX,-8,+der(8)t(8;15)(8qter -> 8p22::15q21 -> 15qter)pat."
    Aberration: Reciprocal translocation
    Positive band
  • Bresson J L, Noir A, Scherrer M: Partial monosomy 8p. Ann. Genet. 20:70-72, 1977. [PubMed: 302680]
    Patient Gilles (000470) in this report.
    46,XY,del(8)(p22).&46,XY,del(8)(qter -> p22:).&The patient had mild mental deficiency and a facial dysmorphia including a triangular mandible and a peculiarly shaped nose with straight parallel margins.
    Aberration: Terminal deletion
    Index Terms: Facial dysmorphism,Mandible ... triangular
    Positive band
  • de Pater J M, Kroes H Y, Verschuren M, van Oppen A C C, Albrechts J C M, Engelen J J M.: Mosaic trisomy (8)(p22->pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences. Prenat. Diag. 25:151-155, 2005. [PubMed: 15712342]
    Amnio=mos47,XX,+mar[3]/46,XX[14].,Blood=mos47,XX,+mar.rev ish der(8)(p22->pter)(D8Z2-,cC18-1+,63M24+)[50]/46,XX[50].
    Amniocentesis was performed because of advanced maternal age. Pregnancy was continued and normal child was born spontaneously at 41 weeks.
    Chromosomal Aneuploidy: 8p+
    Index Terms: SMC without alphoid sequences
  • Dhooge C, Van Roy N, Craen M, Speleman F: Direct transmission of a tandem duplication in the short arm of chromosome 8. Clin. Genet. 45:36-39, 1994. [PubMed: 8149650]
    46,XY,dup(8)(p22 -> p23.1 or p21.3 -> p22).
    Aberration: Direct duplication
    Chromosomal Aneuploidy: 8p+
    Positive band
  • Engelen J J M, de Die-Smulders C E M, Sijstermans J M J, Meers L E C, Albrechts J C M, Hamers A J H.: Familial partial trisomy 8p without dysmorphic features and only mild mental retardation. J. Med. Genet. 32:792-795, 1995. [PMC free article: PMC1051702] [PubMed: 8558557]
    Patients 1 and 2 are brothers and 3 is their mother.
    46,XX or XY,dir dup(8)(pter->p22::p23.1->qter).
    It is suggested that the chromosome region of the band 8p21 is the critical segment for the phenotypic effect in the 8p+ cases.
    Aberration: Direct duplication
    Chromosomal Aneuploidy: 8p+
    Positive band
  • Hertz J M, Sivertsen B, Silahtaroglu A, Bugge M, Kalscheuer V, Weber A, Wirth J, Ropers H-H, Tommerup N, Tumer Z.: Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation. J. Med. Genet. 41:e25, 2004. [PMC free article: PMC1735697] [PubMed: 14985396]
    Aberration: Reciprocal translocation
    MIM#: 117360
    Index Terms: Cerebellar ataxia
  • Pecile V, Petroni M G, Fertz M C, Filippi G: Deficiency of distal 8p-: report of two cases and review of the literature. Clin. Genet. 37:271-278, 1990. [PubMed: 2190718]
    Case 1.
    46,XY,del(8)(qter -> p22:).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 8p-
    Positive band
  • Reiss J A, Brenes P M, Chamberlin J, Magenis R E, Lovrien E: The 8p- syndrome. Hum. Genet. 47:135-140, 1979. [PubMed: 437781]
    Patient BS 190475 in this report. Parents chromosomes were normal. Boy examined at 3 months showed severe retardation of growth and development, severe congenital heart disease, and minor dysmorphic features.
    46,XY,del(8)(qter -> p22:).
    Aberration: Terminal deletion
    Index Terms: Congenital heart defects (cardiovascular anomalies)
    Positive band
  • Sachs E S, Jahoda M G J, van Hemel J O, Hoogeboom A J M, Sandkuyl L A: Chromosome studies of 500 couples with two or more abortions. Obst. Gynecol. 65:375-378, 1985. [PubMed: 3974963]
    Cases 20 and 21: 86-138 and 84-60.
    46,XX and XY,t(8;11)(p22;q24).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
  • Schonberg S, Golbus M S, 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 Nos. 812 and 813.
    46,XY,t(8;15)(p22;q21)pat.
    Aberration: Reciprocal translocation
    Positive band
  • Shieh J T C, Hudgins L, Cherry A M, Shen Z, Hoyme H E.: Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome. AJMG 140A:170-173, 2006. [PubMed: 16353235]
    46,XX,trp(8)(p22p23).
    The patient was 9 1/2 years old with several dysmorphic features.
    Aberration: TRP
    Chromosomal Aneuploidy: 8p+
    Index Terms: Triplication 8p,Kabuki syndrome
  • Tokutomi T, Hayashi S, Imai K, Chida A, Ishiwata T, Asano Y, Inazawa J, Nonoyama S.: dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia. AJMG Part A: 143A: 1334-1337, 2007. [PubMed: 17506094]
    Mother=46,XX,inv(8)(p22q24.3).,Patient=46,XX,rec(8)dup(8p)inv(8)(p22q24.3)mat.
    The 15 year old girl also had exertion dyspnea, MR, minor facial abnormalities.
    Aberration: PI,RE
    Chromosomal Aneuploidy: 8p+;8q-
    Index Terms: Hepatic focal nodular hyperplasia
  • Verma R S, Peakman D C, Robinson A, Lubs H A: Comparison of G-, Q-, and R-banding in 28 cases of chromosomal abnormalities. Cytogenet. Cell Genet. 16:479-486, 1976. [PubMed: 975933]
    Case No. 2194 in this report.
    46,XY,?rec(8),dup q,inv(8)(p22q212).
    Case No. 2318 in this report.
    46,XX,inv(8)(p22q21).
    Aberration: PI,RE
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107101
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