- Bass H N, Sparkes R S, Lessner M M, Fox M, Phoenix B, Bernar J: A family with three independent autosomal translocations associated with 7q32 to 7qter syndrome. J. Med. Genet. 22:59-63, 1985. [PMC free article: PMC1049379] [PubMed: 3981581]These three translocations were segregating independently and individuals with partial trisomy of 7q were found.Individual III-5.46,XY,t(1;6)(p22.3;q14.1),t(1;7)(q43;q32),t(3;10)(q26.1;p11.21).Aberration: Reciprocal translocationNegative band
- Kline A D, Griffin C A, Haddadin M H, Chudoba I, Morsberger L A, Hawkins A L, Amato R S, Munshi G, Cohen M M.: A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple conegnital anomalies. AJMG DOI=10.1002/ajmg.a.30130;129A:124-129, 2004. [PubMed: 15316975]46,XX,t(1;12)(p22.3;q21.3),der(6)(pter->p23::q21->q22.3::q21->p23::q22.3->qter),t(7;18)(q11.2;q21.2).The patient was examined, as a follow-up, at 4 years of age. The MCA do not resemble any clinical entity and are probably related to the chromosome anomalies.The chromosome involved in the translocation is of paternal origin.Aberration: PI,RTIndex Terms: Double inversion, Two independent translocations
- Lai M M R, Robards M F, Berry A C, Fear C N, Hart C: Two cases of interstitial deletion 1p. J. Med. Genet. 28:128-130, 1991. [PMC free article: PMC1016783] [PubMed: 2002484]Case 2.46,XY,del(1)(pter -> p31.3::p22.3 -> qter)de novo.Patient died at 7 months of age. He had MCA/MR.Aberration: Interstitial deletionChromosomal Aneuploidy: 1p-Negative band
- Nishikawa M, Ichiyama T, Hayashi T, Furukawa S.: Mobius-like syndrome associated with a 1;2 chromosome translocation. Clin. Genet. 51:122-123, 1997. [PubMed: 9112001]46,XY,t(1;2)(p22.3;q21.1)de novoThe 15 month old patient had facial diplegia, ptosis, anteverted nostrils, malformed and low-set ears, and slight developmental delay.Aberration: Reciprocal translocationMIM#: 157900Index Terms: Mobius-like syndrome
- Wieacker P, Missbach D, Jakubiczka S, Borgmann S, Albers N.: Sex reversal in a child with the karyotype 46,XY,dup(1)(p22.3p32.3). Clin. Genet. 49:271-273, 1996. [PubMed: 8832137]46,XY,dup(1)(p22.3p32.3).The female patient was 10 years old with sex reversal, MR, and multiple dysmorphic features.Aberration: Direct duplicationChromosomal Aneuploidy: 1p+Negative band
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Copyright © 2011-2013, Digamber
Borgaonkar.
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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-. 01p223.