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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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01p220

1p22
  • Al-Kouatly H B, Chasen S T, Gilbert F, Ahner R, Alonso L M, Chervenak F A.: Correlation between rare chromosomal abnormalities and prenatal ultrasound findings. AJMG 10.1002/ajmg.10130;107:197-200, 2002. [PubMed: 11807899]
    Case No. 1=46,XX,inv(1)(p22q32)de novo
    Mother was 36 years old. Hemivertebra was noted at ultrasound. Congenital kyphosis with normal renal ultrasound was the outcome.
    Aberration: Inversion pericentric
    Index Terms: Hemivertebra
  • 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;9)(p22;p23); t(1;10)(p36;q24).
    Aberration: Reciprocal translocation
    Negative band
  • Bovicelli L, Orgini L F, Rizzo N, Montacuti V, Bachetta M: "Prenatal diagnosis of a de novo reciprocal translocation 46,XX,t(1;18)(p22;q23)." Clin. Genet. 18:434-435, 1980. [PubMed: 7449182]
    "The parents......decided to terminate the pregnancy". The aborted fetus showed no malformations.
    Aberration: Reciprocal translocation
    Negative band
  • Byrd J 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. 25
    46,XX,t(1;4)(p22;q35)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Carroll A J, Prchal J T, Finley W H: Transient hematologic disturbance in three members of a family segregating a balanced chromosome translocation. AJHG 36:265(Abstract), 1984.
    Yang-Feng T L, Bruns G, Carroll A J, Simola K O J, Francke U: Localization of the LDHA gene to 11p14 to 11p15 by in situ hybridization of an LDHA cDNA probe to two translocations with breakpoints in 11p13. Hum. Genet. 74:331-334, 1986. [PubMed: 3793094]
    Aberration: Simple translocation
    Negative band
  • Chitayat D, Fagerstrom C L, Kalousek D K, Rootman J, Taylor G P, Hall J G: "De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome." AJMG 32:36-41, 1989. [PubMed: 2495721]
    Patinet B.T.
    46,XY,t(1;2)(p22;q22).
    Some of the features were growth failure, mental retardation, microcephaly, cryptorchidism, partial syndactyly of the second and third toes and an unusual facial appearance.
    Aberration: Reciprocal translocation
    MIM#: 270400
    Negative band
  • de Michelena M I, Villacorta J, Chavez J: "Double chromosome anomaly: interstitial deletion 5q and reciprocal translocation (1;11)(p22;q21)." AJMG 36:29-32, 1990. [PubMed: 2185634]
    46,XX,t(1;11)del(5)(pter -> q15::q31 -> qter)de novo.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5q-
    Negative band
  • Deroover J, Fryns J P, Haegeman J, van den Berghe H: Paracentric inversion in the short arm of chromosome 1. Hum. Genet. 49:117-121, 1979. [PubMed: 468242]
    Fryns J P, van den Berghe H: Paracentric inversion in man: personal experience and review of literature. Hum. Genet. 54:413-416, 1980. [PubMed: 7399530]
    Family V.D.C.
    46,XX,inv(1)(p22p36).
    Patient MV, 19 years old was an anxious, autistic, severely retarded girl.
    46,XY,inv(1)(p22p36).&46,XY,inv(1)(pter -> p36::p22 -> p36::p22 -> qter).
    Aberration: Inversion paracentric
    Negative band
  • Dhadial R K, Smith M F: "Terminal 7p deletion and 1;7 translocation associated with craniosynostosis." Hum. Genet. 50:285-289, 1979. [PubMed: 489013]
    46,XX,t(1;7)(p22;p15),del(7)(pter -> p15).
    Parental karyotypes were normal.
    Aberration: Simple translocation
    MIM#: 218500
    Index Terms: Craniosynostosis
    Negative band
  • Diedrich U, Hansmann I, Janke D, Opitz O, Probeck H D: Chromosome anomalies in 136 couples with a history of recurrent abortions. Hum. Genet. 65:48-52, 1983. [PubMed: 6642507]
    46,XX,rcp(1;8)(p22;q22).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Donahue S P, Wenger S L, Steele M W, Gorin M B.: Broad-spectrum Mobius syndrome associated with a 1;11 chromosome translocation. Ophthal. Paediat. Genet. 14:17-21, 1993. [PubMed: 8345951]
    46,XY,der t(1;11)(p22;p13)pat.
    The balanced translocation was also present in the phenotypically normal father and a brother. The patient had features of Mobius and Poland syndrome, cleft palate, dextrocardia, mandibular hypoplasia, and multiple areas of diffuse brain volume loss.
    Aberration: Reciprocal translocation
    MIM#: 173750
    Index Terms: Mobius syndrome
  • Estop A M, Bansal V, Lin A, Levinson F, Karlin S M, Surti U, Wenger S L, Steele M W: Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes. AJMG 49:410-413, 1994. [PubMed: 8160735]
    Case 3:
    46,XY,inv(1)(p22p34)de novo.
    The twins had MCA and died several days after birth.
    Case from Dr. Surti''s institution.
    Aberration: Inversion paracentric
    Negative band
  • Francke U, de Martinville B, Coussens L, Ullrich A: The Human gene for the beta subunit of nerve growth factor is located on the proximal short arm of chromosome 1. Science 222:1248-1251, 1983. [PubMed: 6648531]
    Negative band
  • Froster U, Schulte-Korne G, Hebebrand J, Remschmidt H: "Cosegregation of balanced translocation (1;2) with retarded speech development and dyslexia." Lancet 342:178-179, 1993. [PubMed: 8101277]
    46,XY,der(1)der(2)t(1;2)(p22;q31)pat.&"46,XY,t(1;2)(p22;q31)."
    There was severe delayed speech development and reading and writing disability in this family.
    Aberration: Reciprocal translocation
    MIM#: 127700
    Index Terms: Dyslexia
    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;3)(p22;p27).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Fryns J P, Kleczkowska A, Kubien E, Van den Berghe H: Cytogenetic findings in moderate and severe mental retardation. A study of an institutionalized population of 1991 patients. Acta Paed. Scand. Suppl. 313:1-23, 1984. [PubMed: 6241420]
    46,XY,t(1;9)(p22;p24)mat.&46,XX,inv(1)(p22p25)pat.
    Aberration: ST,IP
    Negative band
  • Fryns J P, Kleczkowska A, Van den Berghe H: Paracentric inversions in man. Hum. Genet. 73:205-213, 1986. [PubMed: 3733076]
    Family Nos. 2 and 3.
    46,XX,inv(1)(p22p35)/47,XX,+21,inv(1)(p22p35)pat.&46,XX,inv(1)(p22q36)pat.
    Aberration: Inversion paracentric
    Negative band
  • Fukushima Y, Kuroki Y, Ito T: "Balanced double complex translocations \46,XX,t(1p;6p;7p;3q;11p)(11q;22p;21q)\ in an infant with multiple congenital anomalies." AJMG 25:313-317, 1986. [PubMed: 3777028]
    Patient (KCMC-90261) was 1 month old.
    46,XX,t(1;6;7;11)(11;22;21)(1qter -> p22::11p15 -> 11pter;6qter -> 6p21::1p22 -> 1pter;7qter -> 7p15::6p21 -> 6pter;3pter -> 3q27::7p15 -> 7pter;3qter -> 3q27::11p15 -> 11q11::21q11 -> 21qter;22qter -> 22p11::11q11 -> 11qter;21pter -> 21q11::22p11 -> 22pter).
    Aberration: Complex translocation
    Negative band
  • Geiger C J, Salzano F M, Mattevi M S, Erdtmann B, da Rocha F J: Chromosome Variation and genetic counseling-20 years of experience in Brazil. Brazil. J. Genet. 10:581-591, 1987.
    Case 1789; I. M. F. A.. Mother and son were carriers. She had 5 miscarriages. Her parents had normal karyotypes.
    46,XX or XY,t(1;18)(p22;pter).
    Aberration: Simple translocation
    Negative band
  • Gordon C T, Krasnewich D, White B, Lenane M, Rapoport J L.: Translocation involving chromosomes 1 and 7 in a boy with childhood-onset schizophrenia. J. Autism Develop. Dis. 24:537-545, 1994. [PubMed: 7961336]
    46,XY,der t(1;7)(p22;q22)pat.,The translocation was familial and present in 3 generations.
    The patient was 11 years old.
    Aberration: Reciprocal translocation
    Index Terms: Schizophrenia
  • Gotter A L, Shaikh T H, Budarf M L, Rhodes C H, Emanuel B S.: A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2. Hum. Mol. Genet. 13:103-115; DOI=10.1093/hmg/ddh004, 2004. [PMC free article: PMC2818528] [PubMed: 14613967]
    Rhodes C H, Call K M, Budarf M L, Barnoski B L, Bell C J, Emanuel B S, Bigner S H, Park J P, Mohandas T K.: Molecular studies of an ependymoma-associated constitutional t(1;22)(p22;q11.2). Cytogenet. Cell Genet. 78:247-252, 1997. [PubMed: 9465898]
    Patient M.L.:
    46,XY,t(1;22)(p22;q11.2)de novo
    The 5 year old was presented with a several-week history of headaches, nausea, and vomitting. The abnormal karyotype was detected prenatally because of advanced maternal age. MRI of the brain revealed a large posterior fossa mass involving the fourth ventricle. Examination of the resection specimen revealed an ependymal neoplasm. Numerous mitoses and areas of tumor necrosis supported the diagnosis of malignant ependymoma.
    Aberration: Reciprocal translocation
    Index Terms: Ependymoma,Palindrome,Low-copy-repeat (LCR-B)
  • Kalousek D K, 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. 2
    46,XY,t(1;2)(p22;q31)mat.
    Observation No. 79.
    46,XX,t(1;10)(p22;q12)mat.
    Aberration: Reciprocal translocation
    Negative band
  • McCorquodale M M, Tayel S: "Prenatal detection of de novo 1;5 translocation with the same breakpoints as those identified in a previous unrelated case report." Prenat. Diag. 8:475-476, 1988. [PubMed: 3211850]
    46,XX,t(1;5)(p22;q26).
    Normal growth and development.
    Aberration: Reciprocal translocation
    Negative band
  • Mircher C, Rethore M-O, Lespinasse J, Fert-Ferrer S, Lundsteen C, Kirchoff M.: Interstitial deletion of the short arm of chromosome 1: attempt to establish a clinical phenotype (46,XX,del(1)(p22p32). AJMG DOI=10.1002/ajmg.a.10052; 118A:176-179, 2003. [PubMed: 12655498]
    46,XX,del(1)(p22p32)de novo.
    The girl was born in 1995 and has dysmorphic features and developmental delay.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1p-
  • Miro R, Caballin M R, Pomerol J M, Egozcue J: "A new balanced (1;22)(p22;q13) translocation in a sterile male." Hum. Genet. 71:372, 1985. [PubMed: 4077055]
    Patient was 42 years old.
    46,XY,t(1;22)(p22;q13).
    Aberration: Simple translocation
    Index Terms: Sterility ... male
    Negative band
  • Morichon-Delvallez N, Marchand F: Paracentric inversions in man. Two familial observations. Ann. Genet. 28:119-122, 1985. [PubMed: 3876061]
    Observation 1: M. et Mme P.
    46,XY,inv(1)(p22p36).
    Aberration: Inversion paracentric
    Negative band
  • Neu R L, Miller K, 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. 150.
    46,XY,t(1;18)(p22;q21)pat.
    Observation No. 90
    46,XX,t(1;11)(p22;p13).
    Aberration: Reciprocal translocation
    Negative band
  • Palmer C, 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. 97
    46,XY,t(1;12)(p22;q15)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Patil S R, Lubs H A, Brown J A, Cohen M M, Gerald P S, Hecht F, Kimberling W J, Myrianthopoulos N, Summitt R L: Incidence of major chromosome abnormalities in children. Cytogenetics 18:302-306, 1977. [PubMed: 880833]
    Case 4 in this report.
    46,XX,t(1;2)(p22;q35).&"46,XX,t(1;2)(1qter -> 1p22::2q35 -> 2qter;2pter -> 2q35::1p22 -> 1pter)."&The father and a sib had a balanced Robertsonian translocation t(13q14q).
    Aberration: Reciprocal translocation
    Negative band
  • Roberts T, Chernova O, Cowell J K.: NB4S, a member of the TBC1 domain family of genes, is truncated as a result of a constitutional t(1;10)(p22;q21) chromosome translocation in a patient with stage 4S neuroblastoma. Hum. Mol. Genet. 7:1169-1178, 1998. [PubMed: 9618176]
    t(1;10)(p22;q21)
    Aberration: Reciprocal translocation
    Index Terms: Neuroblastoma,NB4S
  • Sachs E S, Jahoda M G J, van Hemel J O, Hoogeboom A J M, Sandkuyl L A: Chromosome studies of 500 couples with two or more abortions. Obst. Gynecol. 65:375-378, 1985. [PubMed: 3974963]
    46,XY,t(1;8)(p22;p12).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Siegel S F, Ahdab-Barmada M, Arslanian S, Foley T P, Jr.: Ectopic posterior pituitary tissue and paracentric inversion of the short arm of chromosome 1 in twins. Europ. J. Endocrinol. 133:87-92, 1995. [PubMed: 7627343]
    46,XY,inv(1)(p22p34)de novo
    Twins A and B had the same inversion and died at 17 days and 7 weeks of age, respectively.
    Aberration: Inversion paracentric
    Index Terms: Ectopic posterior pituitary tissue
  • 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 7, JF.
    46,XY,t(1;20)(p22;q12).
    Aberration: Reciprocal translocation
    Index Terms: Spontaneous abortion
    Negative band
  • Teyssier M, Moreau N: Etude chez trois sujets steriles de translocations impliquant le chromosome 1. Bull. Assoc. Anat. 66:263-272, 1982. [PubMed: 7150787]
    t(1;11)(p22;p11).
    Aberration: Reciprocal translocation
    Index Terms: Sterility
    Negative band
  • van Hemel J O, van Biervliet J P, de Jager van der Grift P W: "A girl with 46,XX,t(1;15) karyotype. Cytogenetic and clinical observations." Clin. Genet. 8:213-217, 1975. [PubMed: 1175325]
    Case A.Y. (210959) in this report.
    46,XX,t(1;15)(p22;q26).&"46,XX,t(1;15)(1qter -> 1p22::15q26 -> 15qter;15pter -> 15q26::1p22 -> 1pter)."
    Aberration: Reciprocal translocation
    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;4)(p22;q23).&"46,XY,t(1;22)(p22;q11.2)."&"46,XX,t(1;16)(p22;p13)."
    Aberration: Reciprocal translocation
    Negative band
  • Wenger S L, Steele M W, Boone L Y, Lenkey S G, Cummins J H, Chen X Q.: "Balanced" karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents. AJMG 55: 47-52, 1995. [PubMed: 7702096]
    It is commented that newborn infants inheriting a seemingly "balanced" karyotype from a normal parent with a balanced reciprocal translocation may still be at an increased risk of being malformed and/or developmentally delayed because of submicroscopic chromosomal imbalances. It is proposed that autosomal fragile sites are unstable areas which predispose to breaks and unequal crossing over near the fragile site breakpoints creating minute duplications and deletions.
    Case report 2:
    46,XY,t(1;11)(p22;p13).
    The child had small mouth, hypertelorism, and apparently low-set ears.
    Aberration: Reciprocal translocation
    Negative band
  • Yan WL, Guan X-Y, Green E D, Nicolson R, Yap T K, Zhang J, Jacobsen L K, Krasnewich D M, Kumra S, Lenane M C, Gochman P, Damschroder-Williams P J, Esterling L E, Long R T, Martin B M, Sidransky E, Rapoport J L, Ginns E I.: Childhood-Onset Schizophrenia/Autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21. AJMG (Neuropsychiatr. Genet.) 96:749-753, 2000. [PubMed: 11121174]
    46,XY,der rcp(1;7)(p22;q21.3)pat.,The breakpoint was initially thought to be at 7q22.
    The patient, at NIMH, had a long history of agitation, autistic behavior. He had dolichostenomelia.
    Aberration: Reciprocal translocation
    Index Terms: Childhood-onset schizophrenia (COS), Autism
    No 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 8602351:
    46,XY,t(1;13)(p22;q32)pat.
    The proband had abnormal phenotype.
    Lab ID 9406312
    46,XY,t(1;2)(p22;q24)pat.
    The proband had abnormal phenotype.
    Lab ID DD9304709:
    46,XX,t(1;7)(p22;q21.2).
    The proband had reproductive difficulties.
    Aberration: Reciprocal translocation
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105613
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