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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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01p310

1p31
  • Same entry as in 0Xp22.1 (Waters et al, 2001).
  • Azumi J, Sasaki M, Yuki K, Komatsu Y, Kita S, Makino S: "Chromosome translocation t(1p-;17q+) in a boy with gingival fibromatosis." Proc. Jpn. Acad. (Ser. B) 51:188-192, 1975.
    Case 000467 in this report.
    46,XY,t(1;17)(p31;q24).&"46,XY,t(1;17)(1qter -> 1p31::17q24 -> 17qter;17pter -> 17q24::1p31 -> 1pter)."
    Aberration: Reciprocal translocation
    MIM#: 135550
    Index Terms: Gingival fibromatosis
    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(1;5)(p31;q13); inv(1)(p31q12).
    Aberration: Reciprocal translocation
    Positive band
  • Chandley A C, McBeath S, Speed R M, Yorston L, Hargreave T B: Pericentric inversion in human chromosome 1 and the risk for male sterility. J. Med. Genet. 24:325-334, 1987. [PMC free article: PMC1050097] [PubMed: 3612704]
    de Perdigo A, Gabriel-Robez O, Rympler Y: Correlation between chromosomal breakpoint positions and synaptic behaviour in human males heterozygous for a pericentric inversion. Hum. Genet. 83:274-276, 1989. [PubMed: 2793171]
    Patient WSM 213 was 31 years old and oligospermic. Meiotic evaluation was done.
    46,XY,inv(1)(p31q43).
    It is suggested that recombinant offspring might be rarer because of asynapsis or early heterologous synapsis.,Also see report of Gabriel-Robez et al (1994) in Ann. Gen et. 37:3-10.
    Aberration: Inversion pericentric
    Index Terms: Asynapsis,Oligospermia,Oligozoospermia,Sterility ... male
    Positive band
  • Crandall B, 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. 4
    46,XY,t(1;2)(p31;q31)mat.
    Aberration: Reciprocal translocation
    Positive band
  • Daniel A, Ekblom L, Phillips S: Constitutive fragile sites 1p31, 3p14, 6q26, and 16q23 and their use as controls for false-negative results with the fragiles(X). AJMG 18:483-491, 1984. [PubMed: 6476008]
    Aberration: Fragile sites
    Positive band
  • Elejalde B R, Opitz J M, Elejalde M M de, Gilbert E F, Abellera M, Meisner L F, Lebel R R, Hartigan J M: Tandem dup (1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies. AJMG 17:723-730, 1984. [PubMed: 6539070]
    46,XY,dir dup(pter -> p31::p35 -> p31::p31 -> qter).
    Aberration: Direct duplication
    Index Terms: Genitalia ... ambiguous
    Positive band
  • Fryns J P, Kleczkowska A, Lebas E, Goffaux P, Van den Berghe H: Complex chromosomal rearrangement in a mentally retarded boy without gross dysmorphic stigmata. Acta Paed. Scand. 73:138-140, 1984. [PubMed: 6702444]
    46,XY,t(1;3;5)(p31;p22p26;p14q23).&"46,XY,t(1;3;5)(1qter -> 1p31::5p14 -> 5pter;3qter -> 3p22::1p31 -> 1pter;5pter -> 5q23::3p22 -> 3p26::5q23 -> 5qter)."
    Aberration: Complex translocation
    Positive band
  • Garcia-Heras J, Corley N, Garcia M F, Kukolich M K, Smith K G, Day D W.: De novo partial duplications 1p: report of two new cases and review. AJMG 82:261-264, 1999. [PubMed: 10215552]
    Case 1:
    46,XX,dir ins dup(1)(q21p21p31)de novo
    The newborn was evaluated because of craniofacial and limb malformations and a possible heart defect. No autopsy was performed when death occurred after six weeks and discontinuation of support.
    Case 2:
    46,XX,inv dup(1)(p34.1p31)de novo
    The 10 month old patient was being evaluated because of craniosynostosis with plagiocephaly and developmental delay.
    Aberration: IN,DU
    Chromosomal Aneuploidy: 1p+
  • Halal F, Vekemans M J J, Der Kaloustian V M: "A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q." AJMG 32:376-379, 1989. [PubMed: 2658588]
    46,XX,-2,+der(2)t(1;2)(p31;q33).&"46,XX,-2,+der(2)t(1;2)(2pter -> 2q33::1p31 -> 1pter)."
    Anomalies include intrauterine growth retardation, microcephaly, hypotelorism, cleft palate, subglottic stenosis, umbilical hernia, scoliosis, anal atresia, bilateral calcaneovalgus, overlapping toes, and vertebral anomalies.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1p+,2q-
    Positive band
  • Herbich J, Szilvassy J, Schnedl W: Gene localisation of the PGM1 enzyme system and the Duffy blood groups on chromosome No. 1 by means of a new fragile site at 1p31. Hum. Genet. 70:178-180, 1985. [PubMed: 3159642]
    Aberration: Fragile sites
    Positive band
  • Kadotani T, Watanabe Y, Kurosaki N: Fragile sites in newborns. Proc. Jpn. Acad. (Ser. B). 64:61-63, 1988.
    Aberration: Fragile sites
    Positive band
  • Larsen J W, 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. 98
    46,XY,t(1;12)(p31;p13)mat.
    Aberration: Reciprocal translocation
    Positive band
  • Leschot N J, Wolf H, van Prooijen-Knegt A C, van Asperen C J, Verjaal M, Schuring-Blom G H, Boer K, Kanhai H H H, Christiaens G C M L: Cytogenetic findings in 1250 chorionic villus samples obtained in the first trimester with clinical follow-up of the first 1000 pregnancies. Brit. J. Obst. Gynecol. 96:663-670, 1989. [PubMed: 2803989]
    t(1;8)(p31;q24)mat.
    Aberration: Reciprocal translocation
    Positive band
  • Martin R H, Chernos J E, Lowry R B, Pattinson H A, Barclay L, Ko E: Analysis of sperm chromosome complements from a man heterozygous for a pericentric inversion of chromosome 1. Hum. Genet. 93:135-138, 1994. [PubMed: 8112736]
    46,XY,inv(1)(p31q12).
    Patient''s wife had 2 normal children and then 3 consecutive miscarriages.
    Aberration: Inversion pericentric
    Positive band
  • Nagesh Rao P, Heerema N A, Palmer C G: Fragile sites induced by FUdR, caffeine, and aphidicolin. Their frequency, distribution, and analysis. Hum. Genet. 78:21-26, 1988. [PubMed: 2962925]
    Common sites are: 1p31, 1q44, 3p14, 6p25, 6q26, 7q32, 16q23, and Xp22. Common to aphidicolin and caffeine: 2q31 and 2q32. Common to aphidicolin and FUdR: 14q24. Common to FUdR and caffeine: 17q23. Unique to aphidicolin: 1p21-22 and 11p13. Unique to caffein: 2q33, 6q15, 7q22, 16q22, 22q12, and Xq22. Unique to FudR: 1q32, 3q25, 5p14, 5q12, 7p14, 8q24, 9q13, 10q22, 11q14, 12q21, 13q12, 13q21.
    Aberration: Fragile sites
    Positive band
  • Peakman D C, Robinson A: Indications for chromosome analyses: Effect of new banding techniques. J. Ped. 88:166-167, 1976. [PubMed: 54413]
    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. 2276 in this report.
    46,XX,dup(1)(p31p33).
    Aberration: Duplication
    Positive band
  • Same entry as in 01p120, 01p210. (Pettenati et al, 1995).
  • Rodewald A, Cleve H, Stengel-Rutkowski S, Wirtz A, Murken J D, Divalerio M, Mulivor R A, Greene A E, Coriell L L: "A (1;21) balanced translocation in a male with mucopolysaccharidosis type III A. Repository identification No. GM 1881." Cytogenet. Cell Genet. 27:267, 1980. [PubMed: 6777119]
    A 3 year old with Sanfilippo A condition.
    46,XX,t(1;21)(1qter -> 1p31::21q22 -> 21qter;21pter -> 21q22::1p31 -> 1pter).
    Aberration: Reciprocal translocation
    MIM#: 252900
    Index Terms: Mucopolysaccharidosis,Sanfilippo A
    Positive band
  • Sherman S L, Iselius L, Gallano P, Buckton K E, Collyer S, DeMey R, Kristoffersson U, Lindsten J, Mikkelsen M, Morton N E, Nordensson I, Petersen M B, Wahlstrom J: Segregation analysis of balanced pericentric inversions in pedigree data. Clin. Genet. 30:87-94, 1986. [PubMed: 3757307]
    inv(1)(p31q12).
    Aberration: Inversion pericentric
    Positive 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,XX,inv(1)(p31q12).
    Aberration: Inversion pericentric
    Positive band
  • Ward J, Vieto E, Lee D, Arosemena G: "Acrocephalopolysyndacytly, pentalogy of Fallot, and hypoacusis in a patient with a de novo reciprocal translocation involving the short arm of chromosome 1 and the long arm of chromosome 18: 46,XX,t(1;18)(p31;q11)." J. Med. Genet. 30:438-439, 1993. [PMC free article: PMC1016389] [PubMed: 8320714]
    46,XX,t(1;18)(p31;q11)de novo.
    Aberration: Reciprocal translocation
    Index Terms: Acrocephalopolysyndactyly,Pentalogy of Fallot,Hypoacusis
    Positive band
  • Ying Z, Zaiyu C, Chunyun L, Lo W H, Opitz J M: Phenotypic effects of inherited balanced translocation. AJMG 11:177-184, 1982. [PubMed: 7065008]
    46,XY,t(1;4)(p31;q35).&"46,XY,der(1)der(4)t(1:4)(1qter -> 1p31::4q35 -> 4qter;4pter -> 4q35::1p31 -> 1pter)."
    Aberration: Reciprocal translocation
    Positive band
  • Zahed L, Der Kaloustian V, Batanian J R.: Familial complex chromosome rearrangement giving rise to balanced and unbalanced recombination products. AJMG 79:30-34, 1998. [PubMed: 9738865]
    Grandfather (II-3):46,XY, t(1;8)(p31;q21.1),t(8;9)(p23.1;34).,Daughter (III-7):46,XX,rec(8)t(1;8)(p31;q21.1)t(8;9)(p23.1;q34)pat.,Son (III-8):46,XY,rec(8)t(1;8)(p31;q21.1)t(8;9)(p23.1;q34)pat.,Grand-daughter (IV-2):,46,XX,t(1;8)(p31;q21.1)rec(8)t(8;9)(p23.1;q34)mat.,Grand-daughter (IV-3):46,XX,rec(8)t(8;9)(p23.1;q34)mat.
    The family was ascertained because, the proband, IV-3, T.S., a 14-month-old had a terminal deletion. Both ie IV-2 and IV-3 are delayed in thier intellectual skills.
    Aberration: Complex translocation
    Chromosomal Aneuploidy: 8p-;8p+
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107117
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