14q320

Digamber S Borgaonkar

14q320

14q32

Publication Details

Same entry as in 01p350 (Thauvin-Robinet et al, 2007).
Same entry as in 02p121 (Lebbar et al, 2008).
Same entry as in 02q370 (Engelen et al, 2000).
Same entry as in 05q210 (Haider et al, 2006).
Same entry as in 10q240 (Oliver-Bonet et al, 2005).
Same entry as in 16p133 (Bhalla et al, 2004).
Same entry as in 14q220 (Uehara et al, 1994).
Same entry as in 14q230 (Testart et al, 1996).
Same entry as in 04q313 (Burke et al, 1997).
Same entry as in 09p120 (Chaabouni et al, 2001).
Same entry as in 16p133 (Callen et al, 2002).
Same entry as in 11p130 (Al-Awadi et al, 1985).
Same entry as in 07q310 (Alfi et al, 1973).
Same entry as in 14p130 (Angelova E et al, 1987).
Same entry as in 03q210 (Atkins and Miller, 1989).
Same entry as in 06q210, 10q240 (Barisic et al, 1996).
Same entry as in 14p110 (Bonthron D T et al, 1993).
Same entry as in 06p210,08p210,11q210,14q220 (Boue and Gallano, 1984).
Same entry as in 06q150 (Bowser-Riley et al, 1988).
Same entry as in 0Xp110 (Buckton K E et al, 1971).
Same entry as in 10q240 (Canki et al, 1980).
Same entry as in 03p270 (Castle and Bernstein, 1988).
Same entry as in 09p220 (Centerwall et al, 1976).
Same entry as in 09q220 (Chandley et al, 1975).
Same entry as in 04p140,06q230 (De et al, 1986).
Emberger J M, Lloret R, Rossi D: Partial trisomy 21 with 45 chromosomes due to translocation of two chromosomes 21 onto a chromosome 14: 45,XX,-14,-21,+t(14q21q21q). Ann. Genet. 23:179-180, 1980. [PubMed: 6448565]
45,XX,t(14;21;21)(14pter -> 14q32(qter)::21q22 -> 21q21::21q21 -> 21qter).
Patient Isabelle C., 270779, in this report.
Aberration: Complex translocation
Negative band
Same entry as in 06q130 (Friedrich et al, 1982).
Same entry as in 14p130 (Fryns et al, 1983).
Same entry as in 04q330 (Fryns et al, 1993).
Same entry as in 14q240 (Genest et al, 1983).
Same entry as in 05q130 (Geormaneanu et al, 1981).
Same entry as in 14p110 (Gilgenkrantz et al, 1984).
Same entry as in 02p210 (Hockey et al, 1986).
Irving M D, Buiting K, Kanber D, Donaghue C, Schultz R, Offiah A, Mohammed S N, Oakey R J.: Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14. AJMG Part A: 152A: 1942-1950, 2010. [PMC free article: PMC3819653] [PubMed: 20602488]
Aberration: Uniparental disomy
Chromosomal Aneuploidy: 14q+
Jackson L G, 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. 1150.
47,XY,+der(21),t(14;21)(q32;q11)mat.
Aberration: Reciprocal translocation
Negative band
Same entry as in 0Xp110 (Jacobs et al, 1974).
Katoh R, Nagai T, Fukushima Y, Ohta T, Tohma T, Yoshiura K, Niikawa N: Beckwith-Wiedemann syndrome-like phenotype in a girl with 14q32-14qter trisomy that was detected with chromosome band-specific painting. AJHG 51:A82, 1992.
46,XX,-17,+der(17)t(14;17)(q32;p13)de novo.
Patient was 2 years old with MCA: peculiar facies with macroglossia, mid-face hypoplasia and hypertelorism, umbilical hernia, hepatomegaly, and cardiomegaly.
Aberration: Simple translocation
MIM#: 130650
Index Terms: Beckwith-Wiedemann syndrome-like phenotype
Negative band
Same entry as in 19q131 (Korneluk R G et al, 1989).
Koulischer L, Lambotte C: "Telomeric tandem translocation tan(14;15)(q32;q26) and absence of IgA in an incestuous child." Ann. Genet. 17:189-192, 1974. [PubMed: 4548820]
Case 000568 in this report.
46,XY/45,XY,tan(14;15)(q32;q26).&"46,XY/45,XY,tan(14;15)(14pter -> 14q32::15q26 -> 15pter)."&As per the description this tandem translocation chromosome is a dicentric chromosome as well.
Aberration: Tandem translocation
Negative band
Same entry as in 14p110 (Kratzer P G et al, 1992).
Same entry as in 14p100 (Krawczun et al, 1984).
Same entry as in 07q110 (Lozzio and Klepper, 1974).
McMorrow L E, Bornstein S, Fischer R H, Gluckson M M: Partial trisomy 16p due to maternal balanced translocation. J. Med. Genet. 21:315-316, 1984. [PMC free article: PMC1049306] [PubMed: 6492098]
46,XX,t(14;16)(q32;p12).&"46,XY,-14,+der(14),t(14;16)(q32;p12)mat."
Aberration: Simple translocation
Negative band
Same entry as in 04p140 (Mikelsaar et al, 1987).
Same entry as in 03q130 (Mulcahy et al, 1979).
Same entry as in 04q320 (Neri et al, 1983).
Same entry as in 14q240 (Nikolis et al, 1983).
Ohta T, Tohma T, Soejima H, Fukushima Y, Nagai T, Yoshiura K, Jinno Y, Niikawa N: The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting. Hum. Genet. 92:1-5, 1993. [PubMed: 8365720]
Patient 1:
46,XX,t(14;17)(17qter -> 17p1::14q32 -> 14qter)de novo.
Aberration: Simple translocation
Chromosomal Aneuploidy: 14q+
Index Terms: Chromosome-band painting
Negative band
Same entry as in 0Xq130 (Opitz et al, 1973).
Orye E, Craen M: Unexpected findings with the new chromosome banding techniques in a patient formerly diagnosed as having G-deletion syndrome II. Acta Genet. Med. Gemellol. 24:75-82, 1975. [PubMed: 57690]
46,XX,t(14;22)(q32;q11).
Case 010565 in this report.
46,XX,t(14;22)(14pter -> 14q32::22q11 -> 22qter;22pter -> 22q11::14q32 -> 14qter).
Aberration: Reciprocal translocation
Negative band
Orye E, Laureys G, Verhaaren H: Mosaic and non-mosaic trisomy 15q2. Ann. Genet. 28:58-60, 1985. [PubMed: 3874591]
Patient 1: V. D. P. J.
46,XX,t(14;15)(14pter 14q32::15q22 -> 15qter)de novo.
Aberration: Simple translocation
Negative band
Same entry as in 02p140 (Pescia et al, 1979).
Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
46,XX,t(14;20)(q32;q13).
Aberration: Reciprocal translocation
Negative band
Same entry as in 14p110 (Portoian-Shuhaiber et al, 1986).
Same entry as in 14p110 (Raoul et al, 1984).
Same entry as in 14p110 (Rethore et al, 1984).
Same entry as in 14p130 (Riley et al, 1981).
Rivera H, Ramirez-Duenas M L, Figuera L E, Gonzalez-Montes R M, Vasquez A I: Opposite imbalances of distal 14q in two unrelated patients. Ann. Genet. 35:97-100, 1992. [PubMed: 1524416]
Case 1:
46,XY,del(14)(q24q32)de novo.
Case 2:
46,XX,dir dup(14)(q22 -> q32)de novo.
Aberration: ID,DD
Chromosomal Aneuploidy: 14q-,14q+
Negative band
Same entry as in 06q250 (Schmid et al, 1979).
Schwartz S, Palmer C G: Chromosomal findings in 164 couples with repeated spontaneous abortions: with special consideration to prior reproductive history. Hum. Genet. 63:28-34, 1983. [PubMed: 6832778]
Schwartz S, Palmer C G: High-resolution chromosome analysis: I. Applications and limitations. AJMG 19:291-299, 1984. [PubMed: 6542308]
46,XY,rcp(14;18)(q32;q22.2).
Aberration: Reciprocal translocation
Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
Negative band
Same entry as in 02p210 (Sekhon G S et al, 1978).
Stamberg J, Keiles S, 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. 1026.
46,XX,t(14;22)(q32;q12).
Aberration: Reciprocal translocation
Negative band
Teshima I, 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. 1020.
46,XX,t(14;20)(q32;q11)mat.
Aberration: Reciprocal translocation
Negative band
Same entry as in 03p240 (Tho et al, 1982).
Same entry as in 11q130 (Tsujimoto et al, 1984).
Tunca Y, Wilroy R S, Kadandale J S, Martens P R, Gunther W M, Tharapel A T.: Hypomelanosis of Ito and a ''mirror image'' whole chromosome duplication resulting in trisomy 14 mosaicism. Ann. Genet. 43:39-43, 2000. [PubMed: 10818220]
46,XX,add(14)(q32).ish psu dic dup(14)(q32p13)(wcp14+)/46,XX
The proband died at the age of 10 months due to heart failure. She had MCA including unusual hyperpigmentation, tetralogy of Fallot, absent corpus callosum and wide prominent nasal bridge.
Aberration: Dicentric chromosome
MIM#: 146150
Chromosomal Aneuploidy: 14q+
Index Terms: Hypomelanosis of Ito
Same entry as in 14q110 (Turczynowicz S et al, 1992).
Same entry as in 01q320 (Wang J C C et al, 1991).
Same entry as in 06q150,10q240,12q220 (Warburton D, 1991).
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(14;19)(q32;p13).
Aberration: Reciprocal translocation
Negative band
Wilson W G, Kennaugh J M, Kugler J P, Wyandt H E: "Reciprocal translocation 14q;21q in a patient with the Brachmann-de Lange syndrome." J. Med. Genet. 20:469-471, 1983. [PMC free article: PMC1049187] [PubMed: 6655676]
46,XX,t(14;21)(14pter -> 14q32::21q11 -> 21qter;21pter -> 21q11::14q32 -> 14qter).&Parental karyotypes were normal. The patient''s phenotype is that of BDLS.
Aberration: Reciprocal translocation
MIM#: 122470
Negative band
Same entry as in 14p110 (Zelante L et al, 1991).

Publication Details

Copyright

Publisher

National Center for Biotechnology Information (US), Bethesda (MD)

NLM Citation

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-. 14q320.