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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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01q240

1q24
  • Clark R D, Fenner-Gonzales M: Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2. AJMG 34:422-426, 1989. [PubMed: 2596530]
    mos46,XY(37%)/46,XY,dup(1)(q24q31.2)(63%)de novo.
    The child had a diaphragmatic hernia, cleft palate, hypoplastic and absent digits, micrognathia, long philtrum, thin upper lip, anteverted nose, absent right middle lobe of the lung, bilateral renal arteries, urethral stricture, hydronephrosis, aortic coarctation, absent olfactory tracts, and cerebral and cerebellar heterotopias.
    It is suggested that the gene for Fryns syndrome may be located in the region 1q24-31.2.
    Aberration: Direct duplication
    MIM#: 229850
    Chromosomal Aneuploidy: 1q+
    Positive band
  • Crandall B F, Falk R E: Craniosynostosis, profound growth retardation, unusual facies, and multiple minor anomalies associated with intercalary deletion: 46,XX,del(1)(q24,q31). AJHG 26:23A, 1974.
    46,XX,del(1)(q24q31).&46,XX,del(1)(pter -> q24::q31 -> qter).
    Aberration: Interstitial deletion
    Index Terms: Craniosynostosis,Face ... anomalies
    Positive band
  • Duncan A, Price E, 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. 44
    46,XX,t(1;5)(q24;q34)mat.
    Aberration: Reciprocal translocation
    Positive band
  • Gagnon J A, Richer C L, Lemieux N, Gauthier-Chouinard M: "A de novo partial trisomy 1q, in mosaic, due to a 1;9 translocation." Ann. Genet. 27:33-37, 1984. [PubMed: 6609670]
    Patient J.F.C.
    46,XY,der(9)t(1;9)(q24;p22).
    Aberration: Simple translocation
    Positive band
  • Lippman-Hand A, Vekemans M J J: Balanced translocations among couples with two or more spontaneous abortions: Are males and females equally likely to be carriers? Hum. Genet. 63:252-257, 1983. [PubMed: 6852821]
    46,XX,t(1;21)(q24;q22).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
  • Stoll C, Roth M P, Dott B: Trisomy 1q24 to 1q41 in two sibs with an insertion in an inverted chromosome 4. J. Med. Genet. 21:133-135, 1984. [PMC free article: PMC1049243] [PubMed: 6716413]
    46,XX,inv ins(4;1)(p153q28;q24q41).&"46,XX or XX,inv ins(4;1)(q28;q24q41)(p15.3q28)."
    Aberration: Inverted insertions between chromosomes
    Positive band
  • Takano T, Yamanouchi Y, Mori Y, Kudo S, Nakayama T, Sugiura M, Hashira S, Abe T.: Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of Apolipoprotein A-II, coagulation factor V, and antithrombin III. AJMG 68:207-210, 1997. [PubMed: 9028459]
    46,XY.ish del(1)(q24q25.3)de novo
    The newborn infant was noted to have MCA including meningomyelocele, hydrocephalus, anal atresia, and deformity of the penis.
    GTG banded karyotype was interpreted as del(1)(q23q24).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1q-
    Index Terms: Apolipoprotein A-II,Antithrombin III,Coagulation factor V
    Positive band
  • Tomkins D J, Vekemans M J J, Teshima I E, Cox D M, Dallaire L, Gagne R, Kalousek D K, Lin J C C, Markovic V D, Ray M, Sergovich F R, Uchida I A, Wang H: List of all cytogenetic abnormalities detected. Annex 5 to the Canadian multicentre randomized clinical trial of chorion villus sampling and amniocentesis. Prenat. Diag. 12:439-441, 1992. [PubMed: 1523210]
    Subject A041126.
    46,XY,t(1;3)(q24;q13),t(4;15)(q21;q14)de novo.
    Therapeutic abortion was performed.
    Aberration: RT,DT
    Positive band
  • Turleau C, Roubin M, Chavin-Colin F, Satge M, de Grouchy J: "De novo interstitial deletion of the long arm of chromosomes del(1)(q24;q32) in a malformed infant." Ann. Genet. 17:291-294, 1974. [PubMed: 4548828]
    Case 031073 in this report.
    46,XX,del(1)(q24q321).&46,XX,del(1)(pter -> q24::q321 -> qter).
    Aberration: Interstitial deletion
    Positive band
  • Vekemans M J J, Cartier L, 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. 169.
    46,XX,t(1;21)(q24;q22)mat.
    Aberration: Reciprocal translocation
    Positive band
  • Wilbur L, Curcuru-Giordano F M, Krishna S G, Kardon N B, Jenkins E C: "A case of 46,XY,t(1;13)(q24;q32) with mental retardation." Hum. Genet. 37:239-242, 1977. [PubMed: 885541]
    46,XY,t(1;13)(1pter -> 1q24::13q32 -> 13qter;13pter -> 13p32::1q24 -> 1qter).&A de novo apparently balanced reciprocal translocation between the long arms of chromosomes 1 and 13 was found in a 14 year-old mentally retarded boy with congenital malformations. A product of full term pregnancy with birth weight of 2463 grams.
    Aberration: Reciprocal translocation
    Positive band
  • Xia J, Li L, Dai H, Xu J, Xu F, He X: G-banded chromosomes of 3,415 liveborn infants. Chin. Med. J. 97:921-927, 1984. [PubMed: 6443290]
    Case No. 988,191280.
    46,XX,t(1;4)(q24;q21).
    Aberration: Simple translocation
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106700
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