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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Chen C-P, Chang T-Y, Shih J-C, Lin S-P, Wang W, Lee C-C, Town D-D, Pan C-W, Tzen C-Y.: Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion. Prenat. Diag. 22:1063-1066, 2002. [PubMed: 12454959]46,XY,der(12)t(9;12)(p11.2;p13.3)mat.The family had a 5-year-old daughter with a Dandy-Walker malformation and 9p trisomy. This pregnancy was terminated after sonographic examination showed bilateral ventriculomegaly, brachycephaly and a Dandy-Walker malformation with an enalrged cisterna magna and absence of the cerebellar vermis.Aberration: Reciprocal translocationMIM#: 220200Chromosomal Aneuploidy: 9p+;12p-Index Terms: Dandy-Walker malformation,Ventriculomegaly
- Chen C-P, Shih J-C.: Association of partial trisomy 9p and the Dandy-Walker malformation. AJMG DOI=10.1002/ajmg.a.30383; 132A:111-112, 2004 and 2005. [PubMed: 15523627]Mother=46,XX,t(9;12)(p11.2;p13.3).,Patient=46,XX,der(12)t(9;12)(p11.2;p13.3)mat.Aberration: Reciprocal translocationMIM#: 220200Chromosomal Aneuploidy: 9p+Index Terms: Dandy-Walker malformation
- Doneda L, Gandolfi P, Nocera G, Larizza L.: A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite sequences. Chrom. Res. 6:411-414, 1998. [PubMed: 9872671]46,XY,der(14)t(9;14)(p11.2;p11.2)pat,,der var(5)QFQ+.ish(D9Z1+)mat.The proband was a malformed child.An interesting polymorphism in the pericentromeric area of chromosome 5 hybridised with a 9 probe was traced to the maternal grandfather.Aberration: Whole-arm translocationsChromosomal Aneuploidy: 9p+
- Leichtman L G, Zackowski J L, Storto P D, Newlin A.: Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies. AJMG 63:434-437, 1996. [PubMed: 8737648]47,XX,+i(9p)de novo.Facial features that are significantly different in tetrasomy from trisomy 9p are survival, brachycephaly, wide forehead, microphthalmia, low-set ears, cleft lip and palate, and micrognathia.Aberration: IsochromosomeChromosomal Aneuploidy: 9p+Negative band
- Tommerup N, Brandt C A, Pedersen S, Bolund L, Kamper J: "Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5)." J. Med. Genet. 30:958-961, 1993. [PMC free article: PMC1016608] [PubMed: 8301654]46,XX,t(9;11)(p11.2;p15.5)mat.Mother is phenotypically normal.46,XX,t(9;11)(p11.2;p15.5)de novo.Aberration: Reciprocal translocationMIM#: 130650Index Terms: Beckwith-Wiedemann syndromeNegative band
- Valkova G, Grozdanova I, Shishkova N, Hadzhipanayotova N.: Multiple cases of trisomy 9p/distal monosomy 18p in a family due to inherited translocation t(9;18). Folia Medica 35:27-33, 1993. [PubMed: 7927051]Proband, A.Z.K. register no. 40/1989 was 1 1/2 year old. The cytogenetic studies numbers are: 28/1989; 146/1991; and 32/1992.Family members=II-3 and II-8=46,XX,t(9;18)(p11.2;p11.3).,Family members=III-3 proband A.Z.K. 40/1989; III-4 B.Z.K. 264/1991; III-6 S.Z.K. 263/91; and III-19 M.Zh.I. 498/1992=,46,XX or XY,der(18)t(9;18)(18qter->18p11.3::9p11.2->9pter)mat.MCA were present in all the affected members of the family. developmental delay was significant.Aberration: Whole-arm translocationsChromosomal Aneuploidy: 9p+;18p-
- 09p112 - Chromosomal Variation in Man09p112 - Chromosomal Variation in Man
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