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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-.

01q421

1q42.1
  • Concolino D, Cinti R, Ferraro L, Moricca M T, Strisciuglio P.: Partial trisomy 1(q42->qter): a new case with a mild phenotype. J. Med. Genet. 35:75-77, 1998. [PMC free article: PMC1051194] [PubMed: 9475102]
    46,XX,der(8)t(1;8)(q42.1;p23.3)
    The proband was 3 months old with mild developmental retardation and deletion of distal segment of 8p.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1q+
  • Holmes L B, Gargiulo A R, Nadel A S, Racowsky C.: Case 11-2005 - A 32-year-old pregnant woman with an abnormal fetal karyotype. NEJM 352:1579-1587, 2005. [PubMed: 15829539]
    Liberfarb R M, Breg W R, Atkins L, Holmes L B: Multiple congenital anomalies/Mental retardation (MCA/MR) syndrome due to partial 1q duplication and possible 18p deletion: A study of four individuals in two families. AJMG 4:27-37, 1979. [PubMed: 495650]
    46,XX,der(1)der(18)t(1;18)(q42.1;p11.2).,"46,XX and XY,der(18)t(1;18)(18qter -> 18p11.2::1q42.1 -> 1qter).,Two families with similar balanced translocations were found (Families M and Z). The patients were 8 and 18 years old. The common features were macrocephaly, prominent forehead, micrognathia, highly arched palate, short stature, scoliosis, kyphosis, hirsutism, camptodactyly, sacral dimple, inguinal hernia and eye abnormalities.
    A good follow-up with IVF, embryo testing and implantation.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q-;1q+;18p-;18p+
    Index Terms: Camptodactyly,Eye ... anomalies,Forehead ... prominent,Hernia ... inguinal,Hirsutism,Kyphosis,Macrocephaly,Micrognathia,Palate ... high arched,Scoliosis,Stature ... short (low)
  • Lurie I W, Kodunov L A, Veropotwelyan N P, Rumyantseva N V, Zaletajev D V, Belik M G: Trisomy for distal segments of the long arm of chromosome 1. Genetika 25:2251-2255, 1989. [PubMed: 2634579]
    46,XY,t(1;6)(q42.1;p24)mat.&"46,XX,-6,+der(6),t(1;6)(6qter -> 6p24::1q42.1 -> 1qter)pat."
    Multiple congenital anomalies were present in the patient and a fetus with the same chromosomal abnormality. Therefore, it is believed that the phenotypic anomalies are due to the triplication of 1q42.1 to 1qter.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q+
    Negative band
  • Sanford Hanna J A, Ball S, Pagon R A, Donlan M.: Mother to son transmission of del(1)(q42.1q42.3). AJMG 98:103-106, 2001. [PubMed: 11426447]
    Patient 1=46,XY,del(1)(q42.1q42.3)mat.
    The patient at age of 12 years was referred because of developmental delay, attention deficit, and a conduct disorder. Mother was 41 years old.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1q-
    No band
  • Simopoulou M, Harper J C, Fragouli E, Mantzouratou A, Speyer B E, Serhal P, Ranieri D M, Doshi A, Henderson J, Rodeck C H, Delhanty J D A.: Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements. Prenat. Diag 23:652-662, 2003. [PubMed: 12913872]
    Case B=46,XX,t(1;2)(q42.1;p23).
    No pregnancy.
    Aberration: Reciprocal translocation
    Index Terms: PGD
  • Storto P, Zackowski J, Leichtman L, Montgomery T, Newlin A.: Trisomy 1q42qter "syndrome": additional case report. AJMG 99:258-259, 2001. [PubMed: 11241501]
    46,XY,der(12)t(1;12)(q42.1;q24.33)mat.,Several members of the family are reported to be balanced translocation carriers.
    At 24 months of age, the patient was reported to have significant mental and neurodevelopmental delay.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q+
  • Tonnies H, Stumm M, Wegner R-D, Chudoba I, Kalscheuer V, Neitzel H.: Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics. Cytogenet. Cell Genet. 93:188-194, 2001. [PubMed: 11528111]
    8/100 cases referred for evaluation of congenital malformations and dysmorphic features.
    Case 2=46,XY,dup(1)(q42.1q44).rev ish enh(1)(q42q44),wcp1+
    Aberration: Duplication
    Chromosomal Aneuploidy: 1q+
  • Wade J, Morgan T, Allanson J E: Child with deletion of 4q and duplication of 1q. AJMG 33:553-554, 1989. [PubMed: 2596517]
    46,XY,t(1;4)(q42.1;q35.1).&"46,XX,-4,+der(4),t(1;4)(q42.1;q35.1)pat."
    Patient was seen at 4 months of age because of choanal stenosis, tricuspid regurgitation, and manifestations suggestive of craniosynostosis.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1q+,4q-
    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;2)(q42.1;p15).&"46,XY,t(1;6)(q42.1;q23.1)."
    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 DD8403866 and DD8605550:
    46,XX,t(1;11)(q42.1;q21)pat.,46,XY,t(1;14)(q42.1;q22)mat.
    Cases ascertained via prenatal diagnosis.
    Aberration: Reciprocal translocation
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107042
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