14p120

Digamber S Borgaonkar

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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-.

14p120

14p12

Same entry as in 04q210 (Grabowski et al, 2000).
Same entry as in 04q240 (Rinaldi et al, 2003).
Same entry as in 05q330 (Paoloni-Giacobino et al, 1999).
Same entry as in 06p220 (Chen et al, 2004).
Same entry as in 06q150 (Chaabouni et al, 2001).
Same entry as in 07q330 (Bartsch et al, 1990).
Same entry as in 0Yq120 (Buys et al, 1979).
Same entry as in 04p150 (Clark et al, 1982).
Same entry as in 13p120 (Daniel, 1979).
Daniel A: Single Cd band in dicentric translocations with one suppressed centromere. Hum. Genet. 48:85-92, 1979. [PubMed: 457138]
NSW chromosome registry No. 1720.
t(14;15)(p12;p12).
Aberration: Simple translocation
Variable band
Same entry as in 10p110 (Gonzalez et al, 1983).
Same entry as in 13q120 (von and Aula, 1974).
Same entry as in 0Yp110 (Orye and Verhaaren, 1974).
Parcheta B, Skawinski W, Wisniewski Lu, Piontek E, Gutkowska A, Wermenski K: A new case of partial trisomy of 17 long arm. Densitometric analysis of aberrations. Europ. J. Ped. 143:314-316, 1986. [PubMed: 3987734]
Patient T.S. was 9 months old; parental karyotypes were normal.
46,XY,t(14;17)(14qter->14p12::17q12->17qter).
Aberration: Simple translocation
Chromosomal Aneuploidy: 17q+
Variable band
Rivera H, Rivas F, Cantu J M: Reciprocal translocations between acrocentrics: segregational analysis in twenty-nine families with unbalanced progeny. Ann. Genet. 29:93-97, 1986. [PubMed: 3490212]
t(14;21)(p12;q22).
Aberration: Simple translocation
Variable band
Rocchi A, de Capoa A, Gigliani F: Double satellites: Autoradiographic study of a chromosomal marker observed in two generations. Humangenetik 14:6-12, 1971. [PubMed: 5144906]
46,XX,t(14;15)(p12p13).,46,XX,t(14;15)(14qter->14p12::?;15qter->15p13::14p12->14pter).,46,XX,der(14)der(15)t(14;15)(p12;p13)mat.
Aberration: Simple translocation
Variable band
Schmidt R, Eviatar L, Nitowsky H M, Wong M, Miranda S: Ring chromosome 14: a distinct clinical entity. J. Med. Genet. 18:304-307, 1981. [PMC free article: PMC1048739] [PubMed: 7277427]
Patient was 2 years old. Suggestion has been made, on the basis of studies on 7 patients that the major features of this syndrome are mental retardation, a disorder of skin pigmentation, seizures, and dysmorphic features including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low-set ears.
46,XX,r(14)(p12q24).
Aberration: Ring chromosome
Index Terms: Ears ... large,Ears ... low-set,Epicanthal folds,Eye ... downward slant,Neck ... short,Occiput ... flat,Seizures
Variable band
Turleau C, de Grouchy J: Trisomy 18qter and trisomy mapping of chromosome 18. Clin. Genet. 12:361-371, 1977. [PubMed: 589857]
46,XX,t(14;18)(p12;q22).
Patient 3, 130457 (Observation No. 5018) in this report.
46,XX,der(14)t(14;18)(p12;q22)mat.,46,XX,der(14)t(14;18)(14qter->14p12::18q22->18qter)mat.
Patient 4, 291259 (Observation No. 6053) in this report.
46,XX,der(18)t(14;18)(p12;q22)mat.,46,XX,der(18)t(14;18)(18pter->18q22::?)mat.
Aberration: Simple translocation
Variable band

Bookshelf ID: NBK106364

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