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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-.

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

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01q440

1q44
  • Arai E, Nishimura S, Tamura K, Kida M, Ikeuchi T.: Chromosome 1q terminal deletion resulting from de novo translocation with an acrocentric chromosome. Jpn. J. Hum. Genet. 39:433-437, 1994. [PubMed: 7873756]
    46,XX,-1,+der(1)t(1;D or G)(q44;p11)de novo.
    Patient was 4 years old with dysmorphic features, psychomotor retardation, speech delay and general hypotonia but no seizures.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1q-
    Negative band
  • Bezrookove V, Hansson K, van der Burg M, van der Smagt J, Hilhorst-Hofstee Y, Wiegant J, Beverstock G C, Raap A K, Tanke H, Breuning M H, Rosenberg C.: Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH. Hum. Genet. 106:392-398;DOI-10.1007/s004390000268, March 24, 2000. [PubMed: 10830905]
    Case 21:
    46,XX,der(1)t(1;3)(q44;q29)
    The 3 year old child was originally referred because of dysmorphic facial features, microcephaly, abnormal position of the feet, callosal agenesis and malrotation of the bowel. She also experienced convulsions and attacks of aponea with cyanosis. At the age of 2.5 years, she had severe psychomotor retardation, hypotonia and was being re-evaluated because of a normal G-banded karyotype report.
    10 familial and 11 isolated cases with abnormal phenotypes and normal G-banded karyotypes were evaluated because of the need of prenatal diagnosis, estimation of recurrence risk and conclusive diagnosis.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q-;3q+
  • 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;2)(q44;q32); t(1;4)(q44;q22); t(1;4)(q44;q28); t(1;10)(q44;q21).
    Aberration: Reciprocal translocation
    Negative band
  • Caliebe A, Kroes H Y, van der Smagt J J, Martin-Subero J I, Tonnies H, van ''t Slot R, Nievelstein R A J, Muhle H, Stephani U, Alfke K, Stefanova I, Hellenbroich Y, Gillessen-Kaesbach G, Hochstenbach R, Siebert R, Poot M.: Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing HNRPU gene. Europ. J. Med. Genet. 53: 179-185, 2010. [PubMed: 20382278]
    Patient 1=46,XX,inv(4)(q21q35)dn,Patient 3=46,XX,der(1)t(1;3)(q44;q29)dn,Patient 4=46,XX,del(1)(q43q44)dn
    Aberration: ID,TD
    Chromosomal Aneuploidy: 1q-
    Index Terms: HNRPU
  • Courtens W, Petersen M B, Noel J C, Flament-Durand J, Van Regemorter N, Delneste D, Cochaux P, Verschraegen-Spae M R, Van Roy N, Speleman F, Koenig U, Vamos E: Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies. AJMG 51:260-265, 1994. [PubMed: 8074156]
    45,XX,-21,+der(21),t(1;21)(q44;q22.11)mat.
    Karyotyping was done on a fetal blood specimen.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 21q-
    Negative band
  • D''Avanzo M G, Colantuoni M, Sirone P, de Castris L, Perone L, Fiore M, Ventruto V: Double independent balanced translocation in a girl with mild phenotypical stigmata. Ann. Genet. 29:62-64, 1986. [PubMed: 3487281]
    Patient was 30 months old with hyposomia, retarded bone age, slightly dysmorphic ear.
    46,XX,t(1;7)(q44;q22),t(8;10)(q22;q26).
    Aberration: Simple translocation
    Index Terms: Ears ... anomalies (dysmorphic),Hyposomia
    Negative band
  • Davies A F, Kirby T L, Docherty Z, Ogilvie C M.: Characterization of terminal chromosome anomalies using multisubtelomere FISH. AJMG DOI=10.1002/ajmg.a.20056;120A:483-489, 2003. [PubMed: 12884426]
    Case SW:
    46,XX,der(1)t(1;6)(q44;q27).ish der(1)(CEB108+,D1S3739-,D6S2522+).
    Patient was 2 years old with agenesis of corpus callosum, developmental delay and craniofacial anomalies.
    Aberration: ST,TD
    Chromosomal Aneuploidy: 1q-;6q+
  • de Vries B B A, Knight S J L, Homfray T, Smithson S F, Flint J, Winter R M.: Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype? J. Med. Genet. 38:175-178, 2001. [PMC free article: PMC1734828] [PubMed: 11303509]
    It is unfortunate that some authors choose to publish their patients in more than one paper without specifically citing previously published papers causing confusion whether they are reporting on newer cases or only newer studies!

    de Vries B B A, Winter R, Schinzel A, van Ravenswaaij-Arts C.: Telomeres: a diagnosis at the end of the chromosomes. J. Med. Genet. 40:385-398, 2003. [PMC free article: PMC1735506] [PubMed: 12807958]
    De Vries et al (2003) review the data on subtelomeric deletion syndromes quite extensively.

    Knight S J L, Regan R, Nicod A, Horsley S W, Kearney L, Homfray T, Winter R M, Bolton P, Flint J.: Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-1681, 1999. [PubMed: 10568569]
    7.4% of children with moderate to severe MR and 0.5% of children with mild retardation were found to have these rearrangements. The estimated population prevalence of these rearrangements was 2.1/10,000 and they were familial in almost half the cases.
    46,XY,del(1)(q44)de novo.
    The size of deletion is estimated to be about 15.7-23.3cM in size and found to be maternal in origin.
    Case 1 had a de novo subtelomeric deletion in the q arm.
    Pedigree ID 2.3:
    46,XX,der(1)t(1;13)(q44;q34)mat.
    The abortus was found to have micrognathia, midline cleft in soft and hard palate, (Pierre Robin sequence), and thoracic hemivertebrae.
    Size of 1q- is estimated to be 15.7-23.0 cM.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q-;13q+
  • de Vries B B A, White S M, Knight S J L, Regan R, Homfray T, Young I D, Super M, McKeown C, Splitt M, Quarrell O W J, Trainer A H, Niermeijer M F, Malcolm S, Flint J, Hurst J A, Winter R M.: Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J. Med. Genet. 38:145-150, 2001. [PMC free article: PMC1734836] [PubMed: 11238680]
    46,XY,del(1)(q44)de novo.,46,XY,der(1)t(1;13)(q44;q34).,46,XX,der(13)t(1;13)(q44;q34).
    Aberration: TD,ST
    Chromosomal Aneuploidy: 1q-;1q+;13q+
  • Dewald G W, Spurbeck J L, Gordon H: Automated videodensitometric analysis of autosomal translocations. AJHG 26:26A, 1974.
    Family A in this report.
    46,XX and XY,t(1;9)(q44;p11).&"46,X?,-9+der(9)t(1;9)(q44;p11)."
    Aberration: Simple translocation
    Negative band
  • Fryns J P, Kleczkowska A, Kubien E, Petit P, Van den Berghe H: Cytogenetic survey in couples with recurrent fetal wastage. Hum. Genet. 65:336-354, 1984. [PubMed: 6693122]
    46,XX,t(1;4)(q44;q22).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Hathout E H, Thompson K, Baum M, Dumars K W.: Association of terminal chromosome 1 deletion with Sertoli cell-only syndrome. AJMG 80:396-398, [PubMed: 9856570]
    46,XY,del(1)(q44).ish del(1)(D1S555-)
    The patient, ascertained at the age of 19 years, had developmental delay, cryptorchidism, and seizure disorder.
    Aberration: Terminal deletion
    MIM#: 305700
    Chromosomal Aneuploidy: 1q-
    Index Terms: Sertoli Cell-only syndrome
  • Kessel E K, Pfeiffer R A, Welling P: Translocation 22/Y familiale et trisomie partielle autosomique chez une jeune fille. J. Genet. Hum. 27:45-51, 1979. [PubMed: 573310]
    46,XX,-5,-22,+der(5)t(1;5)(q44;p15)? +der(22)t(Y;22)(q12;p13)mat.&"46,XX,-5,-22,+der(5)t(1;5)(5qter -> 5p15::1q44 -> 1qter)? +der(22)t(Y;22)(22qter -> 22p13::Yq12 -> Yqter)mat."
    Aberration: Simple translocation
    Negative band
  • Khodr G 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. 60
    46,XX,-1,+der(1),t(1;6)(q44;q25)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Kovacs G, Mihai C: "Tertiary trisomy 14q-, due to paternal balanced translocation 46,XY,t(1;14)(q44;q22)." Hum. Genet. 49:175-178, 1979. [PubMed: 468247]
    Patient U. A., 260277, in this report. Retardation of growth and mental development, craniofacial dysmorphy, limb anomalies, cryptorchidism and repeated infections were observed.
    46,XY,t(1;14)(q44;q22).&"46,XY,t(1;14)(1pter -> 1q44::14q22 -> 14qter;14pter -> 14q22::1q44 -> 1qter)."&"47,XY,+der(14),t(1;14)(q44;q22)pat."
    Aberration: Reciprocal translocation
    Index Terms: Cryptorchidism, (see also Testes, undescended),Facial dysmorphism
    Negative band
  • Kreiger D, Palmer C G, Biegel A: Human autosomal deletion mapping and HL-A. Humangenetik 23:159-160, 1974. [PubMed: 4852303]
    46,XY,t(1;9)(q44;q11).
    Aberration: Simple translocation
    Negative band
  • Lam A C F, Lai K K S, Chau A T C, Lo I F M, Lam S T S.: Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome. Clin. Genet. 76: 102-107, 2009. [PubMed: 19500117]
    46,XY. ish del(1q)dn.
    Patient was 15 years old.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1q-
    Index Terms: Genitopatellar syndrome
  • Laurent C, Bovier-Lapierre M, Dutrillaux B: "Partial trisomy 10 due to hereditary translocation t(1;10)(q44;q22)." Humangenetik 18:321-327, 1973. [PubMed: 4200006]
    46,XX,t(1;10)(q44;q22).&"46,XX and XY,der(1)der(10)t(1;10)(q44;q22)mat."&"46,XX,-1,+der(1)t(1;10)(q44;q22)mat."&"46,XX,-1,+der(1)t(1;10)(1pter -> 1q44::10q22 -> 10qter)mat."
    Aberration: Simple translocation
    Negative band
  • Lenzini E, Ballarati L, Drigo P, Carrozzi M, Gambel-Benussi D, Giardino D, Petix V, Rizzotto M R, Pecile V.: 1q44-qter trisomy: clinical report and review of the literature. Genet. Test. and Mol. Biomark. 13: 79-86, 2009. [PubMed: 19309278]
    Mother=46,XX.ish.t(1;22)(qter-,qter+;qter-,qter+).,Proband=46,XX,ish der (22) t(1;22)(qter+;qter-)mat.,Patient 2=46,XX.ish del(22)(qter-).
    Patient 1 was a 6.5 year old boy with MR, dysmorphic features and behavioral problems is presented.,Patient 2 was 17 years old.
    Aberration: RT,TD
    Chromosomal Aneuploidy: 1q+
  • Levy B, Dunn T M, Kaffe S, Kardon N, Hirschhorn K.: Clinical applications of comparative genomic hybridization. Genet. in Med. 1:4-12, 1998. [PubMed: 11261428]
    Case 7 :
    46,XY,add(1)(q44).rev ish der(1)t(1;8)(q44;q23)enh(8)(q23qter)
    The patient was 10 years old with severe MR, elongated face, bitemporal narrowing, prominent glabella, short palpebral fissures, and bifid uvula.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1q-;8q+
    No band
  • Merlob P, Kohn G, Litwin A, Nissenkorn I, Katznelson M B M, Reisner S H: New chromosome aberration: duplication of a large part of chromosome 4q and partial deletion of chromosome 1q. AJMG 32:22-26, 1989. [PubMed: 2705479]
    Patient was a newborn followed up to 8 months.
    46,XX,der(1)(1pter->1q44::4q23 or 4->1qter;4pter->4q23 or 4::,1q44->1qter)mat.
    There is good discussion about the interaction of duplication 4q and deletion of 1q on the phenotype.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q-,4q+
    Negative band
  • Meschede D, Louwen F, Eiben B, Horst J.: Intracytoplasmic sperm injection pregnancy with fetal trisomy 9p resulting from a balanced paternal translocation. Hum. Reprod. 12:1913-1914, 1997. [PubMed: 9363705]
    46,XY,t(1;9)(q44;p11.2).,46,XY,der(1),t(1;9)(1pter->1q44::9p11.2->9pter)pat.
    ICSI was performed because of male infertility. Selective abortion was performed of the affected twin.
    Aberration: Reciprocal translocation
    Index Terms: ICSI
  • Narahara K, Tsuji K, Yokoyama Y, Namba H, Murakami M, Matsubara T, Kasai R, Fukushima Y, Seki T, Wakui K, Seino Y: Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of plasminogen and alpha-L- fucosidase 2. AJMG 40:348-353, 1991. [PubMed: 1951444]
    Patient 1.
    46,XY,-6,+der(6),t(1;6)(q44;q2605)pat.
    Patient had multiple congenital anomalies.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 6q-
    Negative band
  • Park V M, Gustashaw K M, Wathen T M: The presence of interstitial telomeric sequences in constitutional chromosome abnormalities. AJHG 50:914-923, 1992. [PMC free article: PMC1682611] [PubMed: 1570843]
    Case 5:
    46,XX or XY,1qs.
    The father and his daughter exhibit spongy nevus of the mouth but are otherwise healthy. The satellite like region is not from 15.
    Aberration: Simple translocation
    Index Terms: Telomeric sequences ... interstitial
    Negative band
  • Patil S R, 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. 156.
    46,XY,t(1;18)(q44;q21).
    Observation No. 71
    46,XX,-1,+der(1),t(1;7)(q44;q34)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Poot M, Kroes H Y, Wijst S E v d, Eleveld M J, Rooms L, Nievelstein R A J, Weghuis D O, Vreuls R C, Hageman G, Kooy F, Hochstenbach R.: Dany-Walker complex in a boy with a 5 Mb deletion of the region 1q44 due to a paternal t(1;20)(q44;q13.33). AJMG 143A: 1038-1044, 2007. [PubMed: 17431901]
    46,XY,der(1)t(1;20)(q44;q13.33)pat.ish(G2-160-H23-,GS-81-F12+).
    Patient was a 10-year-old with facial dysmorphisms, and severe motor and mental retardation (including strongly limited language speech), and abnormalities consistent with the DWC.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q-
    Index Terms: Dandy-Walker complex
  • Ravnan J B, Tepperberg J H, Papenhausen P, Lamb A N, Hedrick J, Eash D, Ledbetter D H, Martin C L.: Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J. Med. Genet. 43:478-489; DOI=10.1136/jmg/2005.036350, 2006. [PMC free article: PMC2564531] [PubMed: 16199540]
    Case 29:46,XY,del(1)(qter)dn,Case 354: t(1;5)(qter;qter)
    Case 29 patient had MCA with dysmorphic features.
    Aberration: TD,RT
    Chromosomal Aneuploidy: 1q-
    Index Terms: Subtelomere rearrangements
  • Ried T in Tamminga C A , Editor: Spectral Karyotyping analysis in diagnostic cytogenetics. Images in Neuroscience. Molecular Biology, VII. Am. J. Psychiat. 154:594, 1997. [PubMed: 9137111]
    Father:46,XY,t(1;11)(q44;p15.3).
    The child had mental retardation.
    It is commented that the child inherited inadequate genetic material. It is estimated that the size of chromosomal material is about 1500 kb pairs.
    Aberration: Reciprocal translocation
  • Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A.: Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum. Genet. 109:286-294, 2001. [PubMed: 11702209]
    Case 15=46,XY,der(1)t(1;18)(q44;p11.3)mat.
    Patient was 8 years old with MCA and MR.
    Positive family history.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q-;18p+
  • Rodriguez-Revenga L, Badenas C, Sanchez A, Mallolas J, Carrio A, Pedrinaci S, Barrionuevo J L, Mila M.: Cryptic chromosomal rearrangement screening in 30 patients with mental retardation and dysmorphic features. Clin. Genet. DOI=10.1111/j..2004.00167.x; 65:17-23, 2004. [PubMed: 15032970]
    Case 2:
    Mother=46,XX,t(1;13)(qter;qter).,Patient=46,XX,der(13)t(1;13)(qter;qter)mat.
    Family with no history of miscarriages. The patient was 2 years old with mild MR.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q+;13q-
  • Romain D R, Bloxham R A, Columbano-Green L M, Chapman C J, Parfitt R G, Smythe R H, Cairney H: Familial distal trisomy 8(q24.13 to qter). J. Med. Genet. 26:133-138, 1989. [PMC free article: PMC1015566] [PubMed: 2918543]
    Three sibs (IV.1, IV.3, and IV.4); and other close relatives (III.5 and III.8) are described.
    46,XX or XY,-1,+der(1),t(1;8)(q44;q24.13)mat.&"46,XX or XY,-1,+der(1),t(1;8)(1pter -> 1q44::8q24.13 -> 8qter)mat."&"46,XX or XY,der(1)der(8)t(1;8)(q44;q24.13)mat and pat."
    Data on phenotypic features of distal 8q trisomy patients are collated.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1q-,8q+
    Negative band
  • Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Bricarelli F D, Bonaglia M C, Bedeschi MF, Borgatti R.: Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J. Med. Genet. 38:417-420, 2001. [PMC free article: PMC1734891] [PubMed: 11424927]
    Zollino M, Colosimo C, Zuffardi O, Rossi E, Tosolini A, Walsh C A, Neri G.: Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait. AJMG DOI=10.1002/ajmg.a.10068, 2002. [PubMed: 12548742]
    Case 11=del(1q)de novo,<12 cM(bp:835D8),maternal origin.
    The 7 month old patient had severe MR, corpus callosum agenesis, cardiopathy, and short stature.
    Case 1=der(1q)t(1q;12p)mat. 1q monosomy=14 cM (bp:962B9).
    Patient was 8 years old at the time of initial karyotyping and 16 at the time of telomere test. Family history of MR and anomalies.
    Zollino et al identified an approximately 14 Mb interval in 1q44qter pathogenetically related to polymicrogyria.
    Aberration: RT,TD
    Chromosomal Aneuploidy: 1q-;12p+
    No band
  • Sachs E S, Jahoda M G J, Kleijer W J, Pijpers L, Galjaard H: Impact of first-trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk: experience with 1,000 cases. AJMG 29:293-303, 1988. [PubMed: 3354601]
    Case 1, 84-103
    Case 2, 86-379
    The fetal karyotype was carrier also.
    The fetal karyotype was:
    46,XY,t(1;3)(q44;p24).&"46,-1,+der(1)t(1;3)(1pter tp 1q44::3p24 -> 3pter)."
    Aberration: Reciprocal translocation
    Negative band
  • Scholtes M C W, Behrend C, Dietzel-Dahmen J, van Hoogstraten D G, Marx K, Wohlers S, Verhoeven H, Zeilmaker G H.: Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fert. Steril. 70:933-937, 1998. [PubMed: 9806579]
    2,280 patients undergoing ICSI were studied.
    46,XY,t(1;9)(q44;p11.2)
    Aberration: Reciprocal translocation
    Index Terms: ICSI
  • Shaffer L G, Kashork C D, Bacino C A, Benke P J.: Caution: Telomere crossing. AJMG 87:278-280, 1999. [PubMed: 10564888]
    The proband was a 6 year old boy with developmental delay and moderate cerebral palsy.
    An interesting telomere pattern on chromosomes 1 and 13 was found in three generations.
    The authors advise excercising caution in interpreting results based on the use of telomere probes in the determination of cryptic chromosomal rearrangements.
    Aberration: Marker chromosome
    Index Terms: Telomere crossing
  • Slinde S, Hansteen I L: Two chromosomal syndromes in the same family: monosomy and trisomy for part of the short arm of chromosome 10. Europ. J. Ped. 139:153-157, 1982. [PubMed: 7151837]
    46,XY,t(1;10)(q44;p13).&"46,XX,der(1)der(10)t(1;10)(q44;p13)pat."
    Case III-1.
    46,XY,-10,+der(10)t(1;10)(10qter -> 10p13::1q44 -> 1qter)mat.
    Cases II-1 and III-2.
    46,XY,-1,+der(1)t(1;10)(1pter -> 1q44::10p13 -> 10pter)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Smith A, Gaha T J: Data on families of chromosome translocation carriers ascertained because of habitual spontaneous abortion. Aust. N. Z. J. Obst. Gynecol. 30:57-62, 1990. [PubMed: 2346453]
    Case 20, PB.
    46,XY,t(1;16)(q44;q124?).
    There is no band 16q124.
    Aberration: Reciprocal translocation
    Index Terms: Spontaneous abortion
    Negative band
  • Song M, Li L.: Partial trisomy 6p due to maternal t(1;6) translocation. Clin. Genet. 49:316-317, 1996. [PubMed: 8884083]
    46,XX,der(1),t(1;6)(1pter->1q44::6p22.2->pter)mat.
    The patient was 4 years old with MCA and MR.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 6p+
    Negative band
  • Stamberg J, Keiles 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. 108
    46,XX,t(1;13)(q44;q14)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Steffensen D M, Prensky W, Mutton D E, Hamerton J L: Mapping the human 5S RNA genes on chromosome 1 using translocations. BD-OAS XI(No. 3):264-268, 1975. [PubMed: 1203493]
    Patient No. P-7172-H9533 at Guy''s Hospital in this report.
    t(1;4)(q44;q25).
    Aberration: Simple translocation
    Negative band
  • Subrt I: Reciprocal translocation with special reference to reproductive failure. Hum. Genet. 55:303-307, 1980. [PubMed: 7203462]
    Case 4; a couple with five spontaneous abortions.
    46,XX,t(1;3)(qter;p21).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Teshima I, 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. 155.
    46,XX,t(1;18)(q44;q21).
    Aberration: Reciprocal translocation
    Negative band
  • Tranebjaerg L, Sjo O, Warburg M: "Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1;6(q44;q27)." Ophthal. Paediat. Genet. 7:167-173, 1986. [PubMed: 3561951]
    Warburg M, Sjo O, Tranebjaerg L: Chromosome 6q deletion and retinal cone dystrophy. AJMG 38:134, 1991. [PubMed: 2012125]
    Case No. 170677. Patient was six years old, with facial dysmorphism and short neck, hands and feet.
    46,XY,t(1;6)(q44;q27)de novo.
    Aberration: Simple translocation
    MIM#: 180020
    Index Terms: Facial dysmorphism,Foot ... short,Hand ... short,Neck ... short
    Negative band
  • Uchida I A, Freeman V, 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. 72
    46,XY,t(1;7)(q44;q35)mat.
    Aberration: Reciprocal translocation
    Negative band
  • van Bever Y, Rooms L, Laridon A, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy R F.: Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype. AJMG DOI=10.1002/ajmg.a.30695;135A:91-95, 2005. [PubMed: 15822126]
    1/75 patients with MR/dysmorphisms and screened showed a pure 1q deletion.
    46,XY.ish del(1)(D1S304-,D1S2785+)
    The 5 year old patient was followed and studied.
    Deletion was between 7.7 and 8.1 Mb in size. The breakpoint region is approximately 26 kb in the RGS7 gene.
    Aberration: Terminal deletion
    MIM#: 602517
    Chromosomal Aneuploidy: 1q-
    Index Terms: RGS7
  • Villa N, Sala E, Colombo D, Dell''Orto M, Grioni D, Dalpra L.: Monosomy and trisomy 1q44-qter in two sisters originating from a half cryptic 1q;15p translocation. J. Med. Genet. 37:612-615, 2000. [PMC free article: PMC1734664] [PubMed: 10991690]
    46,XX,t(1;15)(q44;p12).,Daughter 1=46,XX,der(1)t(1;15)mat.,Daughter 2=46,XX,der(15)t(1;15)mat.
    Both daughters, aged 10 and 5 years, had MCA and MR.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q+
    No 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;15)(q44;q21.3).
    Aberration: Reciprocal 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 DD0104803:
    46,XY,t(1;3)(q44;q25.3)fam
    ''Miscellaneous'' ascertainment.
    Lab ID DD8501079:
    46,XX,t(1;22)(q44;q12.2).
    Case ascertained because of reproductive difficulties.
    Aberration: Reciprocal translocation
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106538
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