13p112

Digamber S Borgaonkar

13p112

13p11.2

Publication Details

Same entry as in 05q350 (Hunter et al, 2005).
Same entry as in 0Xp112 (Kolomietz et al, 2005).
Same entry as in 0Yp113 (Shanske et al, 1998).
Same entry as in 0Yq120 (Siffroi et al, 2001).
Same entry as in 18p110 (Taine et al, 1997).
Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]
Case No. 21=46,XX,r(13).rev ish dim(13p11.2q22).
The patient was dysmorphic with malformations.
Aberration: RI,TD
Chromosomal Aneuploidy: 13q-
Slater H, Shaw J H, Bankier A, Forrest S M, Dawson G.: UPD 13: no indication of maternal or paternal imprinting of genes on chromosome 13. J. Med. Genet. 32:493, 1995. [PMC free article: PMC1050497] [PubMed: 7666408]
Slater H, Shaw J H, Dawson G, Bankier A, Forrest S M: Maternal uniparental disomy of chromosome 13 in a phenotypically normal child. J. Med. Genet. 31:644-646, 1994. [PMC free article: PMC1050029] [PubMed: 7815424]
Proband:
45,XY,der t(13;13)(p11.2;p11.2)mat.&"45,XX,-13,-13,+t(13;13)(p11.2;p11.2)."
Aberration: TR,UPD
Index Terms: Uniparental disomy (UPD)
Variable band
Same entry as in 01p362 (Steele et al, 1984).
Takahashi Y, Narahara K, Kimoto H: Determination of Esterase D (EsD) genotype in cases with trisomy 13. Jpn. J. Hum. Genet. 31:273-287, 1986. [PubMed: 3560513]
Three cases of partial trisomy (1, 2, and 3) 13q(q1411 to qter) and two cases of full trisomy (4 and 5).
Chromosomal polymorphisms and isozyme patterns were useful in determining the parental origin of nondisjunction.&Father: 46,XY,inv(13)(p112q1411).&46,XY,rec(13),dup q,inv(13)(p11.2q14.11)pat.
Aberration: Inversion pericentric
MIM#: 133280
Chromosomal Aneuploidy: 13q+
Index Terms: Patau syndrome (trisomy 13)
Variable band

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-. 13p112.