NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

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].

Show details

03q270

3q27
  • Angle B, Yen F, Hersh J H, Gowans G.: Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome. AJMG DOI=10.1002/ajmg.a.10025, 2002. [PubMed: 12522795]
    46,XY,add(5)(q35).,46,XY,der(5)t(3;5)(q27;q35.2)de novo.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 3q+;5q-
  • Aqua M S, Rizzu P, Lindsay E A, Shaffer L G, Zackai E H, Overhauser J, Baldini A.: Duplication 3q syndrome: Molecular delineation of the critical region. AJMG 55: 33-37, 1995. [PubMed: 7702094]
    Rizzu P, Baldini A.: Subchromosomal band interval mapping and ordering of DNA markers in the region 3q26.3-q27 involved in the dup(3q) syndrome. Genomics 24:580-582, 1994. [PubMed: 7713511]
    46,XX,t(3;5)(q27;p15.3).
    The individual is the mother of SD.
    46,XY,t(3;5)(q27;p15.1).
    The individual is the father of two sibs: KW and DW.
    DW: 46,XY,-5,+der(5),t(3;5)(5qter to 5p15.1::3q27 to 3qter)pat.
    Patient is 26 years old. His birth weight was 3.5 kg, and he was hypotonic, had poor suck, and was noted to have a weak, shrill cry.
    KW: 46,XX,-5,+der(5)t(3;5)(5qter to 5p15.1::3q27 to 3qter)pat.
    Patient was 27 years old with an IQ of 40 to 50. Birth weight was 3.1 kg, hypotonic, poor suck, and a weak cat-like cry.
    SD: 46,XY,-5,+der(5),t(3;5)(5qter to 5p15.3::3q27 to 3qter)mat.
    The patient is about 1 year old with a soft cat-like cry, prominent thickened ears, developmental delay and mild hypotonia.
    Aberration: Simple translocation
    MIM#: 122470
    Chromosomal Aneuploidy: 3q+
    Index Terms: Brachmann-Cornelia de Lange syndrome
    Negative band
  • Same entry as in 02q210 (Boue and Gallano, 1984).

  • 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(3;17)(q27;p13); t(3;18)(q27;q23); t(3;21)(q27;q22).
    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]
    46,XY,t(3;12)(q27;q22).
    Aberration: Simple translocation
    Index Terms: Sterility ... male
    Negative band
  • Brueton L A, Barber J C K, Huson S M, Winter R M: Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features. J. Med. Genet. 26:729-730, 1989. [PMC free article: PMC1015744] [PubMed: 2479748]
    46,XY,del(3)(pter -> q27:)de novo.
    Patient was 8 years old with several dysmorphic features.
    Other explanations such as an unbalanced translocation are also possible.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 3q-
    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. 348.
    46,XX,t(3;9)(q27;q22).
    Aberration: Reciprocal translocation
    Negative band
  • Chitayat D, Babul R, Silver M M, Jay V, Teshima I E, Babyn P, Becker L E.: Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27->qter)]. AJMG 61:45-48, 1996. [PubMed: 8741917]
    46,XX,del(3)(q27->qter), however the authors point out that an alternate interpretation of an interstitial deletion of 3q26.2->3q29 and 46,XX,-3,+der(3)t(3;?)(q27;?) cannot be ruled out.
    The infant died 45 hours after delivery and had MCA including bilateral anophthalmia, CHD, and abnormal genitalia.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 3q-
    Negative band
  • Same entry as in 02q210 (Cohen O et al, 1992).

  • Same entry as in 02q210 (Daniel et al, 1982).

  • Driggesr R W, Macri C J, Greenwald J, Carpenter D, Avallone J, Howard-Peebles P N, Levin S W.: Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2). AJMG 87:201-202, 1999. [PubMed: 10564870]
    Patient E.B.:
    46,XX,t(3;11)(q27;p11.2)de novo
    The infant had short, fused palpebral fissures without palpable globes or visible eyelashes. Ultrasound studies showed no eye tissue, globes or optic nerves.
    Aberration: Reciprocal translocation
    MIM#: 206900
    Index Terms: Anophthalmia isolated bilateral
  • Same entry as in 02q370 (Fineman et al, 1978).

  • FitzSimmons J, Wapner R J, Jackson L G: Repeated pregnancy loss. AJMG 16:7-13, 1983. [PubMed: 6638072]
    46,XY,t(3;21)(q27;q22).
    Aberration: Simple translocation
    Negative band
  • Fryns J P, Kleczkowska A, Van den Berghe H: De novo 3q/7q translocation and associated interstitial deletion. Clin. Genet. 33:60-62, 1988. [PubMed: 3342549]
    Case P. B. was severely mentally retarded and dysmorphic.
    46,XX,t(3;7)(q27;q35)del(7)(pter -> q34::q36 -> qter).
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7q-
    Negative band
  • Same entry as in 01p220 (Fukushima et al, 1986).

  • Same entry as in 03q230 (Gardner R J M et al, 1994).

  • George D L, Francke U: Regional mapping of human genes for Hexosaminidase B and Diphtheria toxin sensitivity on chromosome 5 using Mouse X Human hybrid cells. Somat. Cell Genet. 3:629-638, 1977. [PubMed: 601683]
    46,XY,ins(3;5)(q27;q13q15).&This insertion was found in a phenotypically normal male. DTS locus is assigned to region 5q15->5qter and Hex B locus to 5pter->5q13.
    Aberration: Direct insertion between two chromosomes
    Negative band
  • Grace E, Sutherland G R, Bain A D: Familial insertional translocation. Lancet 2:231, 1972. [PubMed: 4114238]
    46,XX,ins(3;7)(q27;q22q32).&"46,XX,ins(3;7)(3pter -> 3q27::7q22 -> 7q32::3q27 -> 3qter;7pter -> 7q22::7q32 -> 7qter)."&"46,XX,-3,+der(3)ins(3;7)(q27;q22q32)mat."&Also see Grace, E, G R Sutherland and A D Bain: Partial trisomy of 7q resulting from a familial translocation. Ann. Genet. 16:51-54, 1973.
    Aberration: Direct insertion between two chromosomes
    Negative band
  • Granzow M, Popp S, Keller M, Holtgreve-Grez H, Brough M, Schoell B, Rauterberg-Ruland I, Hager H-D, Tariverdian G, Jauch A.: Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals. Hum. Genet. 107:51-57, 2000. [PubMed: 10982035]
    Popp S, Schulze B, Granzow M, Keller M, Holtgreve-Grez H, Schoell B, Brough M, Hager H-D, Tariverdian G, Brown J, Kearney L, Jauch A.: Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay. Hum. Genet. DOI=10.1007/s00439-002-0739-x, 2002. [PubMed: 12136233]
    Individuals I-2 and I-4=46,XX and XY,der t(3;5)(q27;p15.3).,Proband II-1, II-3, and I-1=46,XX and XY,der(5)t(3;5)(5qter->5p15.3::3q27->3qter)mat and pat.
    All affected individuals had unexplained MR and dysmorphic features. The identification of two balanced carriers highlights the issue of genetic counseling and prenatal diagnosis in such families where a need to work them thoroughly by multiplex FISH is obvious.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 3q+;5p-
    Index Terms: Multiplex FISH,M-TEL
  • Grossmann V, Muller D, Muller W, Fresser F, Erdel M, Janecke A R, Zschocke J, Utermann G, Kotzot D.: "Essentially" pure trisomy 3q27->qter: further delineation of the partial trisomy 3q phenotype. AJMG Part A: 149A: 2522-2526, 2009. [PubMed: 19842202]
    46,XX,t(3;4)(q27;p16).ish der(4)t(3;4)(D3S4560+;D4S3359-,WHSC1+,CEP4+).
    The 4 year 8 month old girl with measurements in the upper normal range, developmental delay, and minor dysmorphic features is presented.
    Studies done showed that the translocation was a de novo event in paternal meiosis.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 3q+
  • Happle R: Deletion 3q27 to 3qter associated with a new disorder? Hum. Genet. 85:563, 1990. [PubMed: 2227944]
    Jokiaho I, Niemi K M: Reply. Hum. Genet. 85:564, 1990.
    Jokiaho I, Salo A, Niemi K M, Blomstedt G C, Pihkala J: Deletion 3q27 to qter in an infant with mild dysmorphism, parietal meningocele, and neonatal miliaria rubra-like lesions. Hum. Genet. 83:302-304, 1989. [PubMed: 2793176]
    46,XX,del(3)(pter -> q27:)de novo.
    It has been pointed out that there may be a new skin disorder (miliaria acantholytica) the patient which may have originated because of the chromosomal breaks.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 3q-
    Index Terms: Meningocele,Neonatal miliaria,Skin ... disorder,Miliaria acantholytica
    Negative band
  • Same entry as in 0Xp212 (Harris et al, 1987).

  • Same entry as in 0Xq250 (Hodgson et al, 1986).

  • Howard-Peebles P N, 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. 314.
    46,XX,t(3;4)(q27;q31.3)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Same entry as in 03p140 (Jacobs et al, 1974).

  • Same entry as in 0Xq273 (Jenkins E C et al, 1990).

  • 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. 339.
    46,XX,t(3;7)(q27;q31.2)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Same entry as in 03q250 (Kasai et al, 1985).

  • Same entry as in 02q330 (Kousseff B G et al, 1992).

  • Same entry as in 03q210 (Maier and Beck, 1992).

  • Mann J, Wcislo 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 Nos. 378 and 379.
    46,XX,t(3;14)(q27;q13).
    Aberration: Reciprocal translocation
    Negative band
  • Matsuda T, Nonomura M, Okada K, Hayashi K, Yoshida O: Cytogenetic survey of subfertile males in Japan. Urol. Internat. 44:194-197, 1989. [PubMed: 2800053]
    46,XY,t(3;14)(q27;q11).
    Male with oligozoospermia was studied.
    Aberration: Reciprocal translocation
    Index Terms: Oligospermia,Oligozoospermia
    Negative band
  • Matsuda T, Nonomura M, Yamamoto S, Hayashi K, Yoshida O: Sperm morphology in subfertile carriers of autosomal translocations. Int. J. Fertil. 36:178-182, 1991. [PubMed: 1678374]
    Patient No. 4.
    46,XY,t(3;14)(q27;q11).
    Patient was 32 years old.
    Aberration: Reciprocal translocation
    Index Terms: Sperm ... morphology
    Negative band
  • Mohandas T K, Kaback M M, 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 Nos. 312 and 313.
    46,XX & XY,t(3;4)(q27;q25)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Osztovics M K, Toth S P, Wessely J A: Cytogenetic investigations in 418 couples with recurrent fetal wastage. Ann. Genet. 25:232-236, 1982. [PubMed: 6985013]
    46,XX,t(3;9)(q27;q34)mat.
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    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 Nos. 380 to 382.
    46,XY,t(3;14)(q27;q22)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Phelan M 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. 319.
    46,XY,t(3;5)(q27;q23)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Same entry as in 03q130 (Sachs et al, 1985).

  • Sargent C, Burn J, Baraitser M, Pembrey M E: Trigonocephaly and the Opitz C syndrome. J. Med. Genet. 22:39-45, 1985. [PMC free article: PMC1049376] [PubMed: 3981579]
    Case 6,000880.
    46,XY,del(3)(pter -> q27:).
    Aberration: Terminal deletion
    MIM#: 211750
    Index Terms: Trigonocephaly
    Negative band
  • Same entry as in 03q210 (Stengel-Rutkowski et al, 1979).

  • Same entry as in 03q230 (Stevens and Qumsiyeh, 1995).

  • Tonk V S, Wyandt H E, Huang X, Patel N, Morgan D L, Kukolich M, Lockhart L H, Velagaleti G V N.: Disease associated balanced chromosome rearrangements (DBCR): report of two new cases. Ann. Genet. 46:37-43, 2003. [PubMed: 12818528]
    Case 2:
    46,XY,t(3;7)(q27;p21.2).
    The patient was 17 years old with seizure disorder and dysmorphic features.
    Aberration: Reciprocal translocation
    Index Terms: DBCR
  • 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(3;9)(q27;q21.2).
    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,XX,t(3;14)(q27;q24.3).&"46,XY,t(3;15)(q27;q21)."
    Aberration: Reciprocal translocation
    Negative band
  • Wilson G N, Dasouki M, Barr M, Jr: Further delineation of the dup(3q) syndrome. AJMG 22:117-123, 1985. [PubMed: 4050847]
    46,XX,t(3;14)(q27;q12).
    Patient 3.
    47,XX,+der(14)t(3;14)(14pter -> 14q12::3q27 -> 3qter)mat.
    Aberration: Simple translocation
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105842
PubReader format: click here to try

Views

  • PubReader
  • Print View
  • Cite this Page

Related information

  • OMIM
    Related OMIM records
  • PMC
    PubMed Central citations
  • PubMed
    Links to pubmed

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...