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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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05q150

5q15
  • 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(5;11)(q15;q23); t(5;13)(q15;q12); inv(5)(q15q31).
    Aberration: IP,RT
    Negative band
  • Broustet A, Serville F D, Meynie M, Moulinier J, Moretti G: Cytogenetic study of 30 couples who had several spontaneous abortions. Sem. Hop. Paris 51:299-302, 1975. [PubMed: 169572]
    46,XX,t(5;10)(q15;q25).,46,XX,t(5;10)(5pter->5q15::10q25->10qter;,10pter->10q25::5q15->5qter).,46,XX,der(5)der(10)t(5;10)(q15;q25)mat.
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Brown K K, Alkuraya F S, Matos M, Robertson R L, Kimonis V E, Morton C C.: NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness. AJMG Part (A) 149A:931-938, 2009. [PMC free article: PMC2777524] [PubMed: 19353646]
    A four year old patient: Developmental Genomic Anatomy Project #169).
    46,XX,inv(5)(q15q33.2),del(5) of about 450-560 kb at both breakpoints,dn.
    Aberration: Inversion paracentric
    Index Terms: Deafness syndromic, NR2F1
  • Courtens W, Tjalma W, Messiaen L, Vamos E, Martin J J, Van Bogaert E, Keersmaekers G, Meulyzer P, Wauters J.: Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly. AJMG 77:188-197, 1998. [PubMed: 9605585]
    46,XX,del(5)(q15q31.1)de novo
    Mother had an routine ultrasound at 21 weeks. The fetus was found to have "apparently isolated bilateral club feet". Upon termination of the pregnancy, the diagnosis of Beals syndrome was made.
    The FBN2, fibrillin-2, gene was deleted and the interstitial deletion occurred in the paternally inherited chromosome 5.
    Aberration: Interstitial deletion
    MIM#: 121050
    Chromosomal Aneuploidy: 5q-
    Index Terms: Contractural arachnodactyly congenital,Fibrillin-2 (FBN2),Beals syndrome
  • 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. 1747.
    46,XX,inv(5)(q15q32)pat.
    Aberration: Inversion paracentric
    Negative band
  • Felding I, Kristoffersson U: A child with interstitial deletion of chromosome No. 5. Hereditas 93:337-339, 1980. [PubMed: 7440244]
    Patient was 2 years old. Parental karyotypes were normal.
    46,XX,del(5)(q15q31).
    Aberration: Interstitial deletion
    Negative band
  • Fukuda T, Fukushima Y, Kuroki Y: A case of an interstitial deletion of the long arm of chromosome 5: 46,XX,del(5)(q15q22). Jpn. J. Hum. Genet. 29:63-67, 1984. [PubMed: 6748329]
    Parental karyotypes were normal.&46,XX,del(5)(pter -> q15::q22 -> qter).
    Aberration: Interstitial deletion
    Negative band
  • Harprecht-Beato W, Kaiser P, Steuber E D, Reinhard W: Interstitial deletion in the long arm of chromosome 5. Clin. Genet. 23:167-171, 1983. [PubMed: 6839530]
    46,XY,del(5)(pter -> q15::q31 -> qter).
    Aberration: Interstitial deletion
    Negative band
  • Hodgson S V, Coonar A S, Hanson P J V, Cotrell S, Scriven P N, Jones T, Hawley P R, Wilkinson M L: Two cases of 5q deletions in patients with familial adenomatous polypopsis: possible link with Caroli''s disease. J. Med. Genet. 30:369-375, 1993. [PMC free article: PMC1016370] [PubMed: 8391580]
    Wilkinson M L, Hodgson S H.: FAP and Marfanoid habitus. Eur. J. Hum. Genet. 8:153, 2000. [PubMed: 10757650]
    Proband 2:
    46,XY,del(5)(q15q22.3 or q23.1)de novo.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 5q-
    Index Terms: Caroli disease,Polyposis ... adenomatous familial
    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. 142; 4 years old with mental retardation, dolicocephaly, antimongoloid slanted eyes, exophthalmos, bilateral low set ears, and bilateral undescended testis.
    46,XY,del(5)(q15q31).
    Aberration: Interstitial deletion
    Index Terms: Dolichocephaly,Ears ... accessory,Eye ... antimongoloid,Testes ... undescended (cryptorchidism)
    Negative band
  • Lindgren V, Bryke C R, Ozcelik T, Yang-Feng T L, Francke U: Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis. AJHG 50:988-997, 1992. [PMC free article: PMC1682619] [PubMed: 1315124]
    Patient EC:
    46,XX,del(5)(q15q23.2)de novo.
    Patient had extensive polyposis.
    Patient SD:
    46,XY,del(5)(q15q21.3)de novo.
    Aberration: Interstitial deletion
    MIM#: 175100
    Chromosomal Aneuploidy: 5q-
    Index Terms: Polyposis ... familial adenomatous
    Negative band
  • Li S Y, Gibson L H, Gomez K, Pober B R, Yang-Feng T L.: Familial dup(5)(q15q21) associated with normal and abnormal phenotypes. AJMG 75:75-77, 1998. [PubMed: 9450861]
    46,XY,dup(5)(q15q21).,Twin daughters:46,XX,der dup(5)(q15q21)pat.
    Twin A: cystic hygroma by ultrasound, complex cardiac disease including atrioventricular canal defect, coarctation of aorta, hypoplastic left ventricle, and cystic dysplasia of the right kidney. Twin B: had a cleft palate and a duplicated ureter on the left side.,Father had epilepsy in childhood.
    Placental evaluation confirmed monozygosity. Duplication of 5q confirmed by 5q cosmid probes and FISH.
    Aberration: Duplication
    Chromosomal Aneuploidy: 5q+
  • Malan V, Martinovic J, Sanlaville D, Caillat S, Perrier Waill M-C, Maurin Ganne M-L, Tantau J, Attie-Bitach T, Vekemans M, Morichon-Delvallez N.: Molecular charcterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature. Prenat. Diag. DOI=10.1002/pd.1386; 26:231-238, 2006. [PubMed: 16450350]
    46,XY,del(5)(q15q21.3)de novo.
    Ultrasound examination at 30 weeks showed the presence of fetal malformation. Mother was 32 years old. Pregnancy terminated at 34 weeks.
    Deletion was of paternal origin and about 14 Mb.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 5q-
  • Mowat D, Jauch A, Robson L, Smith A.: Duplication within chromosome 5q characterized by fluorescence in situ hybridization. AJMG 83:361-364, 1999. [PubMed: 10232743]
    46,XY,dup(5)(q15->q23.1)de novo
    The proband was 16 months old with developmental delay, minor anomalies, small penis, and lymphedema of the upper limbs.
    YAC probes, TYAC12 at 5q35, HTY3182 at 5q34, and TYAC139 at 5q31 did not give duplicated signals and MCC at 5q22 APC region showed duplication at 5q22.
    Aberration: Duplication
    Chromosomal Aneuploidy: 5q+
  • Pettenati M J, Rao P N, Phelan M C, Grass F, Rao K W, Cosper P, Carroll A J, Elder F, Smith J L, Higgins M D, Lanmn J T, Higgins R R, Butler M G, Luthardt F, Keitges E, Jackson-Cook C, Brown J, Schwartz S, Van Dyke D, Palmer C G. : Paracentric inversions in humans: a review of 446 paracentric inversions with presentation of 120 new cases. AJMG 55:171-187, 1995. [PubMed: 7717416]
    Case from Henry Ford Hospital (D. L. Van Dyke).
    inv(5)(q15q33)pat.
    Mode of ascertainment was MR/MCA.
    Aberration: Inversion paracentric
    Index Terms: Inversions ... paracentric
    Negative band
  • Pilarski R T, Brothman A R, Benn P, Rosengren S S.: Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q. AJMG 86:321-324, 1999. [PubMed: 10494086]
    46,XY,del(5)(q15q22).ish(APC-)
    The patient was 39 years old, initially referred because of possible Prader-Willi syndrome, had 50-60 polyps, absence of multiple congenital hypertrophy of the retinal pigment epithelium (CHRPE).
    Aberration: Interstitial deletion
    MIM#: 175100
    Chromosomal Aneuploidy: 5q-
    Index Terms: Familial adenomatous polyposis (FAP)
  • Rocchi M, Ferraro M, Archidiacono N, Pelliccia F, Valenti C, de Capoa A: "A new translocation involving chromosomes No. 5 and No. 12 t(5;12)(5q15;12p13)." J. Genet. Hum. 25:135-139, 1977. [PubMed: 915487]
    Case Davide (000771) 3-1/2 year old boy with severe psychomotor retardation. Parents chromosomes were normal.
    46,XY,t(5;12)(q15;p13).&"46,XY,t(5;12)(5pter -> 5q15::12p13 -> 12pter;12qter -> 12p13::5q15 -> 5qter)."
    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 15, AY.
    46,XY,t(5;18)(q15;q23).
    Aberration: Reciprocal translocation
    Index Terms: Spontaneous abortion
    Negative band
  • Stoll C: Cytogenetic findings in 122 couples with recurrent abortions. Hum. Genet. 57:101-103, 1981. [PubMed: 7262863]
    Case 3.
    46,XX,t(5;16)(q15;p11).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Uehara S, Takabayashi T, Okamura K, Yajima A: The outcome of pregnancy and prenatal chromosomal diagnosis of fetuses in couples including a translocation carrier. Prenat. Diag. 12:1009-1018, 1992. [PubMed: 1287636]
    46,XY,t(5;18)(q15;q22).&"47,XX,+18,der t(5q;18q)pat."
    Aberration: Reciprocal translocation
    Negative band
  • van de Vooren M, Planteydt H T, Hagemeijer A, Peters-Slough M F, Timmerman M J: "Familial balanced insertion (5;10) and monosomy and trisomy (10)(q24.2 to q25.3)." Clin. Genet. 25:52-58, 1984. [PubMed: 6705241]
    Van Hemel J O, Eussen H J.: Interchromosomal insertions. Identification of five cases and a review. Hum. Genet. 107:415-432, 2000. [PubMed: 11140939]
    46,XY,der(5)inv ins (5;10)(q15;q26.3q25.2)mat.
    A large family reported earlier in 1984 and expanded in 2000.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 10q+
    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,inv(5)(q15q31).
    Aberration: Inversion paracentric
    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,XX,t(5;19)(q15;p13).
    Aberration: Reciprocal translocation
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107088

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