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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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14q112

14q11.2
  • Same entry as in 0Xq13.1 (Waters et al, 2001).
  • Brunetti-Pierri N, Paciorkowski A R, Ciccione R, Mina E D, Bonaglia M C, Borgatti R, Schaaf C P, Sutton R, Xia Z, Jelluma N, Ruivenkamp C, Bertrand M, de Ravel T J L, Jayakar P, Belli S, Rocchetti K, Pantaleon C, D''Arrigo S, Hughes J, Cheung S W, Zuffardi O, Stankiewicz P. : Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Europ. J. Hum. Genet. 19:102-107, 2011. [PMC free article: PMC3039509] [PubMed: 20736978]
    Aberration: Duplication
    Chromosomal Aneuploidy: 14q+
    Index Terms: Epilepsy,FOXG1
  • Chen E, Choe M A, Loughman W D, Covert S, Bitts S, Rowe A, Beischel L, Johnson J P.: Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic comparison of two brothers and a paternal aunt inheriting the der(14). AJMG DOI=10.1002/ajmg.a.30511; 132A:164-170, 2004 and 2005. [PubMed: 15551340]
    A three generation family is reported.
    Proband=46,XY,var(21) in 1990.,Individual II:2=46,XY,der t(14;21)(q11.2;q11.2)mat.,Individuals II:1, III:2 and III:3=46,X(X/Y),der(14)r(14;21)(q11.2;q11.2)mat/pat.ish der(14)(D14Z1/D22Z1+,wcp14+,wcp21+).
    Individuals II:1, III:2 (proband) and III:3 have speech and developmental problems and associated minor anomalies. They are partially trisomic for proximal 14q and partially monosomic for proximal 21q.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 14q+;21q-
  • Govaerts L, Toorman J, Blij-Philipsen M V D, Smeets D.: Another patient with a deletion 14q11.2q13. Ann. Genet. 39:197-200, 1996. [PubMed: 9037346]
    46,XY,del(14)(q11.2q13)de novo[62]/46,XY[1]
    The child had MCA and died at 7 mo of age because of pneumonia.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 14q-
    Negative band
  • Grammatico P, De Sanctis S, Di Rosa C, Cupilari F, Del Porto G: First case of deletion 14q11.2q13: clinical phenotype. Ann. Genet. 37:30-32, 1994. [PubMed: 8010711]
    46,XY,del(14)(q11.2q13)de novo.
    Patient was 3 years old with MCA including severe neurological anomalies, microcephaly, right plagiocephaly and cryptorchidism.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 14q-
    Index Terms: Plagiocephaly
    Negative band
  • Hasegawa T, Hara M, Ando M, Osawa M, Fukuyama Y, Takahashi M, Yamada K: Cytogenetic studies of familial Prader-Willi syndrome. Hum. Genet. 65:325-330, 1984. [PubMed: 6693121]
    Schinzel A A, Robinson W P, Bottani A, Yagang X, Prader A: Prader-Willi or Angelman syndrome in familial 15q11 to q13 deletion of maternal origin? Hum. Genet. 88:361-362, 1992. [PubMed: 1733842]
    46,XX or XY,rcp(14;15)(q11.2;q13).&"46,XX or XY,-15,+der(14)rcp(14;15)(14pter -> 14q112::15q13 -> 15qter)mat and pat."
    Aberration: Reciprocal translocation
    Index Terms: Prader-Willi ... Critical Region (PWCR)
    Negative band
  • Kamnasaran D, O''Brien P C M, Schuffenhauer S, Quarrell O, Lupski J R, Grammatico P, Ferguson-Smith M A, Cox D W.: Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. AJMG 102:173-182, 2001. [PubMed: 11477612]
    Schuffenhauer S, Leifheit H-J, Lichtner P, Peters H, Murken J, Emmerich P.: De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings. J. Med. Genet. 36:233-236, 1999. [PMC free article: PMC1734334] [PubMed: 10204852]
    46,XY,del(14)(q11.2q13)de novo. Paternal origin of deletion was shown encompassing region from D14S264 to D14S70.
    The 3 year old boy presented with severe psychomotor retardation, bilateral cleft lip/palate, bilateral colobomas of the optic nerves and retinas, agenesis of the corpus callosum, pes calcaneovarus, reduced oesophageal peristalsis, and swallowing difficulties.
    Aberration: Interstitial deletion
    MIM#: 167416
    Chromosomal Aneuploidy: 14q-
    Index Terms: PAX9
  • Kamnasaran D, O''Brien P C M, Schuffenhauer S, Quarrell O, Lupski J R, Grammatico P, Ferguson-Smith M A, Cox D W.: Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. AJMG 102:173-182, 2001. [PubMed: 11477612]
    Shapira S K, Anderson K L, Orr-Urtregar A, Craigen W J, Lupski J R, Shaffer L G: De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. AJMG 52:44-50, 1994. [PubMed: 7977460]
    Patient 737:
    46,XX,del(14)(q11.2q21.1)de novo.
    Patient was 6 months old with MCR/MR.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 14q-
    Negative band
  • Monfort S, Blesa D, Rosello M, Orellana C, Oltra S, Cigudosa J C, Martinez F.: Duplication of 14q11.2 associates with short stature and mild mental retardation: A putative relation with quantitative trait loci. AJMG Part A: 143A: 382-384, 2007. [PubMed: 17230491]
    46,XY.,46,XY,dup(14)(q11.2).
    The 14 year old was referred because of short stature (,3rd centile), hypogenitalism and mild MR.
    The size of the duplication is about 5.38 Mb.
    Aberration: Duplication
    Chromosomal Aneuploidy: 14q+
  • Same entry as in 07p130,07q320 (Wallace et al, 1984).
  • Zahir T, Firth H V, Baross A, Delaney A D, Eydoux P, Gibson W T, Langlois S, Martin H, Willatt L, Marra M A, Friedman J M.: Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and minor anomalies in three children. J. Med. Genet. 44: 556-561, 2007. [PMC free article: PMC2597953] [PubMed: 17545556]
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 14q-
  • Zannolli R, Mostardini R, Pucci L, Guarna M, Hadjistilianou T, Zerega G, Pierluigi M, Franco B, Morgese G.: A de novo mutation [45,XX,der(5),t(5;14)(pter;q11.2) and a neuroectodermal disorder, mimicking the MLS phenotype. AJHG 67 (Suppl. 2):123, 2000.
    45,XX,der(5)t(5;14)(pter;q11.2)de novo
    The patient was 2 years old with microphthalmia, corpus callosum, multiple cysts (cerebral and cardiac), subtle ocular abnormalities, skin defects and neuroectodermal defects.
    Chromosome 5 has a small deletion confined to region of repetitive sequences.
    Aberration: RT,ID
    Chromosomal Aneuploidy: 5p-
    Index Terms: Microphthalmia with linear skin lesion (MLS)
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105563
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