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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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01q250

1q25
  • Chen H, Gershanik J J, Mailhes J B, Sanusi I D: Omphalocele and partial trisomy 1q syndrome. Hum. Genet. 53:1-4, 1979. [PubMed: 535894]
    46,XY,t(1;21)(q25;q22).&"46,XY,der(21),t(1;21)(q25;q22)pat."&Clinical findings include: Hypoglycemia, ocular hypertelorism, microphthalmia, colobuma of the iris, low-set ears, beak nose, micrognathia, micropenis, flexion contractures of the fingers, bifid thumb, and simian crease. In addition, he had a large omphalocele not previously seen in trisomy 1q. Postmortem findings include underdeveloped cerebellum. Small adrenal, and fatty change of the liver. The grandfather, father, and a male sibling have the translocation. A family history of reported spontaneous abortions is present.
    Aberration: Simple translocation
    Index Terms: Coloboma,Ears ... low-set,Eye ... microphthalmia,Fetal wastage (Habitual recurrent, spontaneous abortion),Flexion ... contractures,Hypertelorism,Hypoglycemia,Micrognathia,Microphthalmia,Ocular (optic) anomalies,Omphalocele,Penis ... hypoplastic (microphallus)
    Negative band
  • Czeizel A E, Timar L.: Hungarian case with Costello syndrome and translocation t(1,22). AJMG 57:501-503, 1995. [PubMed: 7677162]
    Maroti Z, Kutsche K, Sutajova M, Gal A, Nothwang H G, Czeizel A E, Timar L, Solyom E.: Refinement and delineation of the breakpoint regions of a chromosome 1;22 translocation in a patient with Costello syndrome. AJMG 109:234-237, 2002. [PubMed: 11977185]
    Proposita, 01031988.
    46,XX,t(1;22)(q25;q13.1).
    The translocation breakpoint on chromosome 1q25 has been mapped to a 109-kb region.
    Aberration: Reciprocal translocation
    MIM#: 218040
    Index Terms: Costello syndrome,Faciocutaneoskeletal (FCS) syndrome
  • Daniel A: Structural differences in reciprocal translocations. Potential for a model of risk in rcp. Hum. Genet. 51:171-182, 1979. [PubMed: 511145]
    Daniel A, Stewart L, Saville T, Brookwell R, Paull H, Purvis-Smith S, Lam-Po-Tang P R L C: Prenatal diagnosis in 3,000 women for chromosome, X-linked, and metabolic disorders. AJMG 11:61-75, 1982. [PubMed: 7065004]
    Registry No. 1857 in this report.
    46,XY,der(3),t(1;3)(q25;p25)mat.
    Aberration: Reciprocal translocation
    Index Terms: Metabolic disorders
    Negative band
  • de la Chapelle A, Koivisto M, Aronson M M, Greene A E, Coriell L L: Interstitial deletion in the long arm of chromosome 1 in a subject with congenital abnormalities. Repository identification No. GM-214. Cytogenet. Cell Genet. 23:220, 1979. [PubMed: 436455]
    A 2-year-old white male with congenital malformations in addition to hypoglycemia, primary hypothyroidism, and growth hormone deficiency. Both parents and a brother have normal karyotypes.&46,XY,del(1)(pter -> q25::q32 -> qter).
    Aberration: Interstitial deletion
    Index Terms: Hypoglycemia,Hypothyroidism
    Negative band
  • Dignan P, Krouskop 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. 17
    46,XX,-3,+der(3),t(1;3)(q25;p23)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Ferguson-Smith M A: Gene Mapping by exclusion. Personal communication XI(No. 3):126-129, 1975,1978. [PubMed: 1203470]
    46,XX,der(5),ins(5;1)(5pter -> 5q15::1q32 -> 1q25::5q15 -> 5qter)pat.
    46,XY,ins(5;1)(5pter -> 5q15::1q25 -> 1q32::5q15 -> 5qter;1pter -> 1q25::1q32 -> 1qter).
    Aberration: Direct insertion between two chromosomes
    Negative band
  • Garrett J H, Finley S C, Finley W H: Fetal loss and familial chromosome 1 translocations. Clin. Genet. 8:341-348, 1975. [PubMed: 1239343]
    Family H. in this report.
    46,XX,t(1;4)(q25;q35).&"46,XY,der(1)der(4)t(1;4)(q25;q35)mat."&"46,XY,-4,+der(4)t(1;4)(q25;q35)mat."&"46,XY,-4,+der(4)t(1;4)(4pter -> 4q35::1q25 -> 1qter)mat."&There is partial trisomy of segment 1q25 -> 1qter. Three spontaneous abortions occurred in this family. More data are needed -> delineate the syndrome but in five (add Seabright''s case 01q300) patients with partial trisomy of 1q the common features are low birth weight, wide-set eyes, micrognathia, hirsutism, thymic abnormalities, failure -> thrive and undescended testes.
    Aberration: Simple translocation
    Index Terms: Eye ... wide-set,Fetal wastage (Habitual recurrent, spontaneous abortion),Hirsutism,Micrognathia,Testes ... undescended (cryptorchidism),Thymic ... abnormalities
    Negative band
  • Gfatter R, Braun F, Schnedl W.: The common features of patients with partial trisomy of the long arm of chromosome 1. Clin. Genet. 54:161-163, 1998. [PubMed: 9761398]
    mos46,XX/46,XX,der(3)t(1;3)(q25;q29)de novo[21% in blood]
    Various abnormalities of the head, hypertelorism, malformed ears and abnormalities of the fingers and toes are present in 50-80% of all cases. Narrow palpebral fissures, microphthalmia, cataract, cleft lip and palate seem to be dependent on the size of the 1q duplication as are the cardiac, urinary tract and intestinal malformations.
    A good synthesis of data on 55 patients with 1q trisomies is presented.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1q+
  • Gregori-Romero M, Lopez-Gines C, Gil R, Pellin A: "Congenital hyperthyroidism with reciprocal translocation t(1;17)(q25;q21)." Hum. Genet. 83:203, 1989. [PubMed: 2777262]
    46,XX,t(1;17)(q25;q21).
    Aberration: Reciprocal translocation
    Index Terms: Congenital hyperthyroidism
    Negative band
  • Hamano S, Fukushima Y, Yamada T, Shimizu H, Okuyama M, Ito F, Maekawa K: A case of interstitial 1q deletion \46,XY,del(q25q32.1)\. Ann. Genet. 30:105-108, 1987. [PubMed: 3314663]
    Patient was 10 years old.
    46,XY,del(1)(q25q32.1).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1q-
    Negative band
  • Hustinx T W J, Nabben F A E, Scheres J M J C: Partial trisomy of chromosome 1 resulting from a complex maternal rearrangement of chromosomes 1, 5, and 6. AJMG 3:353-358, 1979. [PubMed: 474635]
    46,XX,t(1;5;6)(q25q42;q33;q27).&"46,XX,t(1;5;6)(1pter -> 1q25::6q27 -> 6qter;5pter -> 5q33::1q42 -> 1qter;6pter -> 6q27::1q42 -> 1q25::5q33 -> 5qter)."&The patient died after 16 days.
    Aberration: Complex translocation
    Negative band
  • Ida T, Harada N, Abe K, Kondoh T, Yoshinaga M, Maki T, Niikawa N.: Identification of de novo chromosome rearrangements: five cases analyzed with differential chromosome painting. AJMG DOI=10.1002/ajmg.10257;108:182-186, 2002. [PubMed: 11891682]
    Case 5=46,XY,add(1)(q32).46,XY,dup(1)(pter->q32::q25->qter).
    Patient was 3 years old with MCA and MR.
    Aberration: Duplication
    Chromosomal Aneuploidy: 1q+
  • Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]
    Case 13=46,XY,t(1;5;12)(q25;p15;q21).rev ish dim(5p14p14).
    Case from a group of dysmorphic and MR subjects with normal or apparently balanced karyotypes.
    Aberration: Complex translocation
  • Kuwano A, Sugio Y, Murano I, Kajii T: Common fragile sites induced by folate deprivation, BrDU and aphidicolin: their frequency and distribution in Japanese individuals. Jpn. J. Hum. Genet. 33:355-364, 1988. [PubMed: 3144619]
    This site is unique to folate deficiency.
    Aberration: Fragile sites
    Negative band
  • Madan K, Nieuwint A W M.: Reproductive risks for paracentric inversion heterozygotes: inversion or insertion? That is the question. AJMG DOI=10.1002/ajmg.10173, 2001. [PubMed: 11840494]
    Madan K, Seabright M, Lindenbaum R H, Bobrow M: Paracentric inversions in man. J. Med. Genet. 21:407-412, 1984. [PMC free article: PMC1049338] [PubMed: 6392555]
    Case 1.
    46,XX,inv(1)(q25q42)pat,inv(7)(p12q31.2)pat.
    Aberration: Inversion paracentric
    Negative band
  • Mau U A, Backert I T, Kaiser P, Kiesel L.: Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection. Hum. Reprod. 12:930-937, 1997. [PubMed: 9194642]
    Couple No. 19, S.S.:
    46,XX,t(1;8)(q25;p11.2)mat
    Husband S.M. diagnosed with cryptozzospermia.
    Aberration: Reciprocal translocation
    Index Terms: ICSI
    No band
  • McCarthy G T, Fear C N, Berry A C: Three children with partial trisomy 1q and partial monosomy 3p. J. Med. Genet. 23:466-467, 1986. [PMC free article: PMC1049787] [PubMed: 3783626]
    A family with several carriers and three generations is reported.
    46,XX or XY,t(1;3)(q25;p23).&"46,XX or XY,-3,+der(3),t(1;3)(3qter -> 3p25::1q25 -> 1qter)mat or pat."
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q+,3p-
    Negative band
  • Mennuti M T, Jingeleski S, Schwarz R H, Mellman W J: An evaluation of cytogenetic analysis as a primary tool in the assessment of recurrent pregnancy wastage. Obst. Gynecol. 52:308-313, 1978. [PubMed: 360121]
    Case 19; A 28 year old woman with three first trimester abortions.
    46,XX,t(1;2)(q25;q23).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative 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(1;6)(q25;q27).
    The two inversion cases are from Laboratory for Genetic Services (J. L. Smith/M. D. Higgins) and Medical College of Virginia (C. Jackson-Cook/J. Brown).
    46,XY,inv(1)(q25q44).
    Aberration: IP,RT
    Index Terms: Inversions ... paracentric
    Negative band
  • Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
    46,XX,t(1;4)(q25;q33).
    Aberration: Reciprocal translocation
    Negative band
  • Pressey T L, Wilson R D, Kasperski S, Bebbington M W, Adzick N S.: Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis. AJMG Part A: 143A: 1104-1107, 2007. [PubMed: 17431907]
    46,X,der(X)t(X;1)(p11.2;q25 or q31).
    Parental karyotyping could not be done.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q+;Xp-
    Index Terms: Hydrops fetalis
  • Richkind K 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. 27
    46,XY,t(1;4)(q25;q31)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois M-C, Prieur M, Romana S, Vekemans M, Munnich A, Colleaux L.: Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. J. Med. Genet. 39:266-270, 2002. [PMC free article: PMC1735076] [PubMed: 11950856]
    46,XX,del(1)(q25)de novo, 12.5-15.5 Mb, maternal in origin.
    Severe MR, IUGR, and MCA.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 1q-
  • Rosenthal J, Abeliovich D, Carmi R: Clinical variability of partial duplication 1q: a clinical report and literature review. AJMG 27:787-792, 1987. [PubMed: 3122569]
    Patient died 5 days after birth and had multiple congenital anomalies.
    46,XY,t(1;18)(q25;p11).&"46,XX,-18,+der(18)t(1;18)(18qter -> 18p11::1q25 -> 1qter)pat."
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1q+,18p-
    Negative band
  • Scarbrough P R, Files B, Carroll A J, Quinlan R W, Finley S C, Finley W H: Interstitial deletion of chromosome 1 \del(1)(q25q32)\ in an infant with Prune Belly sequence. Prenat. Diag. 8:169-174, 1988. [PubMed: 3375199]
    Patient Baby G.
    46,XY,del(1)(q24q32)de novo.
    Aberration: Interstitial deletion
    MIM#: 100100
    Chromosomal Aneuploidy: 1q-
    Negative band
  • Schinzel A A: Possible trisomy 1q25 to 1q32 in a malformed girl with a de novo insertion in 1q. Hum. Genet. 49:167-173, 1979. [PubMed: 468246]
    Patient, died at 4 months, had a characteristic facial dysmorphology including deep-set eyes, broad nasal bridge, small mouth, high arched and narrow palate, severely receding mandible and misshapen ears; constant flexion of the proximal interphalangeal joints, and short distal phalanges and nails of fingers, a congenital heart defect; marked muscular hypotonia, and motor and growth retardation.
    46,XX,dup(1)(q25q32).&46,XX,dup(1)(1pter -> q32::q25 -> q32::q32 -> qter).
    Aberration: Duplication
    Index Terms: Congenital heart defects (cardiovascular anomalies),Ears ... mishappen,Eye ... deep set,Facial dysmorphism,Hypotonia,Mandible ... receding,Motor retardation,Mouth ... small,Palate ... high arched,Palate ... narrow
    Negative band
  • Sole M T, Rivera H, Sanchez-Corona J, Plascencia M L, Cantu J M: "Partial trisomy 1q and monosomy 18q due to a de novo t(1;18)(q25;q23)." Ann. Genet. 26:120-122, 1983. [PubMed: 6604487]
    46,XX,-18,+der(18)t(1;18)(18pter -> 18q23::1q25 -> 1qter)de novo.
    Aberration: Simple translocation
    Negative band
  • Sutherland G R, Carter R F, Bauld R, Smith I I, Bain A D: Chromosome studies at the paediatric necropsy. Ann. Hum. Genet. 43:173-181, 1978. [PubMed: 569457]
    t(1;5)(q25;p13).
    Aberration: Simple translocation
    Negative band
  • Tawn E J, Roberts M B R, Ghazala R G, Pyta E M T: Partial trisomy 1q25 to 1qter. J. Med. Genet. 23:371, 1986. [PMC free article: PMC1049713] [PubMed: 3746845]
    Patient died after 10 hours and had multiple anomalies. Parental karyotypes were normal.
    46,XY,-17,+der(17),t(1;17)(17qter -> 17p13::1q25 -> 1qter).
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1q+
    Negative band
  • Wang S G, Ren G Q, Xue H, Shen Q Y, Song L L, Yuan P: Cytogenetic study of 1633 cases. Chin. Med. J 101:231-236, 1988. [PubMed: 3138079]
    Study done in couples with abortions or stillbirths.
    46,XY,t(1;15)(q25;q24).
    Aberration: Simple translocation
    Negative 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. 552,020280.
    46,XY,t(1;8)(q25;p21).
    Aberration: Simple translocation
    Negative band
  • Youings S, Ellis K, Ennis S, Barber J, Jacobs P.: A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. AJMG DOI=10.1002/ajmg.a.20553; 126A:46-60 , 2003 and 2004. [PubMed: 15039973]
    Lab ID DD8001981 and DD8402549:
    46,XY,t(1;8)(q25;p12)pat.,46,XX,t(1;18)(q25;q21.3)mat.
    Cases ascertained during prenatal diagnosis.
    Lab ID DD9907617:
    46,XX,t(1;13)(q25;q31).
    Case ascertained because of reproductive difficulties.
    Aberration: Reciprocal translocation
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105470
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