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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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  • Same entry as in 0Xq230, 0Xq270 (Waters et al, 2001).
  • 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 2=46,XX,del(3)(p13p21.1)de novo,t(10;13)(q22.1;q32.1)de novo,del(11)(q21q23.1)de novo
    Agenesis of the corpus callosum was noted during pregnancy by ultrasound. MCA of the heart, brain, kidneys, eyes, and limbs were noted at birth and there was neonatal demise.
    Aberration: ID,RT
    Chromosomal Aneuploidy: 3p-;11q-;
    Index Terms: Agenesis of corpus callosum
  • 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]
    Boue J, Boue A, Girard S, Thepot F: Diagnostic prenatal des anomalies chromosomiques. Arch. Fr. Ped. 33:653-664, 1976. [PubMed: 999438]
    t(3;4)(p13;p14); t(3;15)(p13;q26); t(3;17)(p13;p13).,46,XX,t(3;18)(p13;p11).
    Aberration: Reciprocal translocation
    Negative band
  • Bourrouillou G, Dastugue N, Colombies P: Chromosome studies in 952 infertile males with a sperm count below 10 million/ml. Hum. Genet. 71:366-367, 1985. [PubMed: 4077053]
    Aberration: Inversion pericentric
    Index Terms: Sterility ... male
    Negative band
  • Bowser-Riley S M, Griffiths M J, Creasy M R, Farndon P A, Martin K E, Thomson D A G, Larkins S A, Johnson R A, Watt J L: Are double translocations double trouble? J. Med. Genet. 25:326-331, 1988. [PMC free article: PMC1050459] [PubMed: 3290489]
    Family and Pedigree No. 2
    Multiple malformations in three week old female infant.
    Aberration: Double translocation
    Chromosomal Aneuploidy: 3p+
    Negative band
  • de Arce M A, Law E, Martin L, Masterson J G: A case of inverted insertion assessed by R and G banding. J. Med. Genet. 19:148-151, 1982. [PMC free article: PMC1048848] [PubMed: 6176711]
    46,XY,inv ins(16;3)(q22;p26p13).
    Aberration: Inverted insertions between chromosomes
    Negative band
  • Donahue R P, 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. 320.
    Aberration: Reciprocal translocation
    Negative band
  • Fryns J P, Kleczkowska A, Van den Berghe H: Paracentric inversions in man. Hum. Genet. 73:205-213, 1986. [PubMed: 3733076]
    Fryns J P, Van den Berghe H: Familial paracentric inversion of the short arm of chromosome 3. Ann. Genet. 22:163-164, 1979. [PubMed: 316673]
    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 Nos. 6 to 12.
    46,XX and XY,inv(3)(p13p25).,Families K. and V. K.,No recombinants have been seen so far in this or any other family with this type of aberration.,46,XX,inv(3)(p13p25)mat or pat or fam.
    Aberration: Inversion paracentric
    Negative band
  • Gustavson K H, Lundberg P O, Nicol P: Familial partial trisomy 5p resulting from segregation of an insertional translocation. Clin. Genet. 33:404-409, 1988. [PubMed: 3168312]
    Case IV:5, 000080.
    46,XX,der(3) inv ins(3;5)(3pter->3p13::5p15->5p13::3p13->3qter)pat.,46,XX or XY,inv ins(3;5)(p13;p13p15).
    Proband was mentally retarded and had congenital anomalies. Other family members showed minor congenital anomalies.
    Aberration: Inverted insertions between chromosomes
    Chromosomal Aneuploidy: 5p+
    Negative band
  • Habedank M, Kampe G: "Familial translocation t(3p-;21q+) associated with both Down''s and Sturge-Weber''s syndrome in unbalanced state." Humangenetik 29:207-216, 1975. [PubMed: 126210]
    46,XY,t(3;21)(p13;q22).&"46,XX and XY,der(3)der(21)t(3;21)(p13;q22)pat."&"47,XY,-3,+del der(3)t(3;21)(p13;q22)der+(21)t(3;21)(p13;q22)mat."&"47,XY,-3,+del der(3)t(3;21)(3qter -> 3p13)+der(21)(21pter -> 21q22::3p13 -> 3pter)mat."&Breakage is hypothesized to have occurred at the interface between band 3p12 and 3p13.
    Aberration: Simple translocation
    MIM#: 185300
    Index Terms: Down syndrome (Trisomy 21),Sturge-Weber syndrome
    Negative band
  • Hastings R J, Watson S G, Chitty L S.: Prenatal finding of a fetus with mosaicism for two balanced de novo chromosome rearrangements. Prenat. Diag. 19:77-80, 1999. [PubMed: 10073914]
    mos46,XX,t(3;10)(p13;q21.1)de novo,inv(6)(p23q12)de novo/,46,XX
    Case ascertained because of abnormal ultrasound examination at 23 weeks showing fetal cerebral ventriculomegaly. The pregnancy was terminated at 25 weeks. Autopsy showed ASD, abnormal segmentation of the lungs, high arched palate and small low set ears.
    Aberration: RT,DA,PI
  • Jenderny J: "Sperm chromosome analysis of two males heterozygous for a t(2;17)(q35;p13) and t(3;8)(p13;p21) reciprocal translocation." Hum. Genet. 90:171-173, 1992. [PubMed: 1427772]
    Ascertained after three spontaneous abortions.
    A significant excess of chromosomally normal versus balanced sperm complements was observed.
    Aberration: Reciprocal translocation
    Index Terms: Sperm ... chromosome analysis
    Negative band
  • Katano T, Murakami M, Kadotani T: Further cytogenetic studies on 105 cases from genetic counseling. Proc. Jpn. Acad. (Ser. B) 56:263-267, 1980.
    Case No. 194; A 3 months old girl with growth retardation, microcephaly, exophthalmus, macrophthalmus, and liver enlargement.
    Case No. 195; A 34 year old female.
    46,XX ins(15;3)(p13;q22).
    Aberration: Direct insertion between two chromosomes
    Index Terms: Eye ... microphthalmia,Microcephaly
    Negative band
  • Kogame K, Kudo H: "Interstitial deletion 3p associated with t(3p-;18q+) translocation." Jpn. J. Hum. Genet. 24:245-252, 1979. [PubMed: 547083]
    46,XX,del(3),t(3;18)(p13;q23).&"46,XX,del(3)t(3;18)(3qter -> 3p13::18q23 -> 18qter; 18pter -> 18q23::3p21 -> 3pter)."&A girl with growth and mental retardation, ventricular dilatation, hypoplastic brain and other minor anomalies is described in this report. The karyotypes of the parents were normal.
    Aberration: Terminal deletion
    Negative band
  • Kratzer P G, Golbus M S, Schonberg S A, Heilbron D C, Taylor R N: Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. AJMG 44:657-663, 1992. [PubMed: 1481829]
    Aberration: Reciprocal translocation
    Negative band
  • Kruger A J, Jansen S, Marx M P, Coetzee D J, Cilliers A E, Human S, Spies I Z, Roux F: "Simultaneous occurrence of heritable t(3;7) and t(14;21) in two sibs." J. Med. Genet. 25:718-720, 1988. [PMC free article: PMC1051571] [PubMed: 3225830]
    46,XY,-14,+der t(14q21q)pat,der(3)der(7)t(3;7)(3pter->3p13::,7p15->7qter;7pter->7p15::3p13->3qter)mat.,45,XX,t(3;7)(p13;p15)mat,t(14q21q)pat.,45,XY,t(14q21q).,46,XX,t(3;7)(p13;p15).
    Proband was one year old with features of Down syndrome. A rather large family study.
    The authors have erroneously stated that heritable translocations of the type t(3;7) have not been reported before.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 21+
    Index Terms: Double translocations
    Negative band
  • Kueppers F, Dewald G W, Gordon H, Pineda A: Exclusion of the HLA locus from a large portion of the long arm of chromosome 6. Hum. Hered. 27:242-246, 1977. [PubMed: 70394]
    Family 2 in this report.
    46,XX,ins(3;6)(p13;q21q27).&"46,XX,ins(3;6)(3qter -> 3p13::6q21 -> 6q27::3p13 -> 3pter)."&"46,XX,der(3)der(6)ins(3;6)(p13;q21q27)mat."&"46,XY,der(3)ins(3;6)(p13;q21q27)mat."&Carrier mother and grand-mother were normal. The patient at 6 months had a cleft palate, cardiac anomaly, camptodactyly, stiffness of the large joints, and a unilateral cataracts.
    Aberration: Direct insertions within a chromosome
    Index Terms: Cleft lip/palate,Camptodactyly
    Negative band
  • Melendez B, Rodriguez-Perales S, Martinez-Delgado B, Otero I, Robledo M, Martinez-Ramirez A, Ruiz-Llorente S, Urioste M, Cigudosa J C, Benitez J.: Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1). Hum. Genet. DOI=10.1007/s00439-002-0848-6; 112:178-185, 2002. [PubMed: 12522559]
    Proband (III-1)=46,XY,der t(3;8)(p13;q24.1)mat.,Maternal aunt (II-3)=46,XX,t(3;8)(p13;q24.1).
    A large Spanish family with RCC was studied.
    Aberration: Reciprocal translocation
    MIM#: 144700
    Index Terms: Hereditary renal cell carcinoma (RCC)
  • 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 30; A 24 year old husband of a woman with 2 spontaneous abortions.
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    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. 1220.
    Aberration: Inversion pericentric
    Negative band
  • Palmer C G, Poland C, Reed T, Kojetin J: Partial trisomy 11, 46,XX,-3,-20,+der3,+der20,t(3:11:20), resulting from a complex maternal rearrangement of chromosomes 3, 11, 20. Hum. Genet. 31:219-225, 1976. [PubMed: 1248831]
    Family No. 21922 in this report.
    46,XX,t(3;11;20)(p13;p11;q13).,46,XX,t(3;11;20)(3p13->3qter;11p11->11qter;,20pter->20q13::11pter->11p11::3p13->3pter).,46,XX,-3,-20,+der(3)+der(20)t(3;11;20)(p13;p11;q13)mat.,The trisomy for chromosome 11p showed mental and growth retardation, prominent frontal bossing and a large anterior fontanelle, eye abnormalities, high arched or cleft palate and abnormal dermatoglyphics. Data on two other similar cases are summarized (Falk et al, 1973 listed under 02q300 and Sanchez et al, 1974 listed under 11p120).
    Aberration: Complex translocation
    Index Terms: Cleft lip/palate,Eye ... anomalies,Fontanelles ... posterior, large,Palate ... high arched
    Negative band
  • Peters-Slough M F, Planteydt M J, Timmerman M J, Vooren M J V D: A familial paracentric inversion in the short arm of chromosome 3: a case report. Clin. Genet. 22:102-104, 1982.
    Aberration: Inversion paracentric
    Negative band
  • Ruiz C, Grubs R E, Jewett T, Cox-James K, Abruzzese E, Pettenati M J, Rao P N.: Prenatally diagnosed de novo apparently balanced complex chromosome rearrangements: two new cases and review of the literature. AJMG 64:478-484, 1996. [PubMed: 8862625]
    Patient B:
    46,XY,t(3;8)(3qter->3p13::8q21.3->8qter;8pter->8q21.3::3p13->3pter),t(6;18;6;7)(6pter->6p11.2::18q21->18pter;18qter->18q21::6p11.2->6q25::7q34->7qter;7pter->7q34::6q25->6qter)de novo.
    Aberration: CT,RT
    Negative band
  • Schinzel A, Gundelfinger R, Dutly F, Baumer A, Binkert F.: A 5-year-old girl with interstitial deletion of 3p14: clinical, psychologic, cytogenetic, and molecular studies. AJMG 77:302-305, 1998. [PubMed: 9600740]
    46,XX,del(3)(pter->p21.1::p13->qter)de novo
    The proposita was being followed since birth to 5 years.
    The authors report a 7th case with this deletion and state that a comparison of the cases does not yet allow a definition of a specific pattern of minor and major anomalies.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 3p-
  • Soudek D, O''Shaughnessy S, Laraya P, McCreary B D: Pericentric inversion of ''fluorescent'' segment in chromosome No. 3. Humangenetik 22:343-346, 1974. [PubMed: 4139098]
    Family L in this report.
    46,XY,inv(3)(p13q12).&46,XY,inv(3)(pter -> p13::q12 -> p13::q12 -> qter).&46,XX and XY,der(3)inv(3)(p13q12)pat.&Three unrelated cases of pericentric inversion were identified. Two other cases are identified as A.C. and L.F. in this report. Also see report by Soudek et al,(1978) under 03p110.
    Aberration: Inversion pericentric
    Negative band
  • Tuerlings J H A M, de France H F, Hamers A, Hordijk R, Van Hemel J O, Hansson K, Hoovers J M N, Madan K, Van Der Blij-Philipsen M, Gerssen-Schoorl K B J, Kremer J A M, Smeets D F C M.: Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience. Europ. J. Hum. Genet. 6:194-200, 1998. [PubMed: 9781022]
    46,XY,der inv(3)(p13p26)
    Aberration: Inversion paracentric
    Index Terms: ICSI
  • 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]
    Aberration: Reciprocal 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. 01324,170281.
    Aberration: Inversion pericentric
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105927


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