NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
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- Barnes I C S, Maltby E L: Prometaphase chromosome analysis as a routine diagnostic technique. Clin. Genet. 29:378-383, 1986. [PubMed: 3742844]Case No. 6.46,XY,del(1)(q423).Aberration: Terminal deletionNegative band
- Gentile M, Di Carlo A, Volpe P, Pansini A, Nanna P, Valenzano M C, Buonadonna A L.: FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications. AJMG DOI=10.1002/ajmg.a.10018; 117A:251-254, 2003. [PubMed: 12599188]46,XX,del(1)(q42q44)rev 46,XX,del(1)(q42.3)The patient was born in 1977 had dysmorphic features and developmental problems.Aberration: Terminal deletionChromosomal Aneuploidy: 1q-
- Gibson L H, McGrath J, Yang-Feng T L.: A complex chromosome rearrangement with at least five breakpoints studied by fluorescence in situ hybridization. AJMG 68:417-420, 1997. [PubMed: 9021014]Individual WM and his mother DM:DM:46,XX,t(1;5;2)(1pter->1q42.3::5q23.2->5qter;5pter->5q21.2::2q33->2q35::1q42.3->1qter;2pter->2q33::5q21.2->5q23.2::2q35->2qter:).,WM:46,XY,der(1)der(5)t(1;5;2)1pter->1q42.3::5q23.3->5qter;5pter->5q21.2::2q33->2q35::1q42.3->1qter)mat.The infant WM presented with MCA including plagiocephalic skull with frontal bossing, hypertelorism, upturned flat nasal bridge, cleft palate, and posteriorly displaced anus. He had a dup of 2q33->2q35 and a del of 5q21.2->5q23.2.Aberration: Complex translocationNegative band
- Kozma C, Slavotinek A M, Meck J M.: Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants. AJMG DOI=10.1002/ajmg.a.20332, 2003. [PubMed: 14699608]Four generation family with several spontaneous abortions and children with MCA.II-2,III-4,III-5,IV-8,IV-10=46,XX or XY,t(1;3)(q42.3;p25).,V-8, V-9, IV-14, IV-16=46,XX or XY,der(3)t(1;3)(q42.3;p25).,V-10,IV-7,IV-11=46,XX or XY,der(10t(1;3)(q42.3;p25)Aberration: Reciprocal translocation
- Sullivan B A, Leana-Cox J, Schwartz S: Clarification of subtle reciprocal rearrangements using fluorescence in situ hybridization. AJMG 47:223-230, 1993. [PubMed: 8213910]Patient 4:46,XY,t(1;18)(q42.3;q23).Patient was ascertained because of family history of spontaneous abortions and peripheral blood lymphoblasts were used.Aberration: Reciprocal translocationIndex Terms: FISHNegative band
- Tuschi K, Fritz B, Herle M, Fonatsch C, Bodamer O A.: Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: delineation of a new syndrome. AJMG Part A: DOI=10.1002/ajmg.a.31792, 2007. [PubMed: 17676599]Mother=46,XX,t(1;21)(q42.3;q22.3).,Patient=46,XX,der(21)t(1;21)(q42.3;q22.3)mat.rev ish der(21)enh (q42.3qter), ish der(21)(wcp21+,wcp1+,D21S1219/D21S1220-,D1S3738+).Aberration: Reciprocal translocationChromosomal Aneuploidy: 1q+; 21q-
- Watson M S, Gargus J J, Blakemore K J, Katz S N, Breg W R: Chromosome deletion 1q42-43. AJMG 24:1-6, 1986. [PubMed: 3706398]Patient 1(S.M.) was 5 months old.46,XY,del(1)(q42.3).Aberration: Interstitial deletionNegative band
- Wiley J E, Kushnick T, Coleman J, Palmer S M.: Reply to Dr. Qumsiyeh and Dr. Peppers. AJMG 65:174, 1996.
Wiley J E, Stout J C, Palmer S M, Kushnick T.: De novo nonreciprocal translocation 1;8 confirmed by fluorescent in situ hybridization. AJMG 57:579-580, 1995. [PubMed: 7573132]Patient C.M.:46,XY,t(1;8)(1pter->1q42.3::8q22.1->8qter;8pter->8q22.1:)de novo.MCA were noted and bilateral inguinal hernias were operated on.The father was at Oyster Creek and Three Mile Island!Aberration: Simple translocationChromosomal Aneuploidy: 1q-Index Terms: Translocation ... nonreciprocalNegative band - Yamamoto Y, Okamoto N, Yanagisawa M, Nishimoto H, Kann Z, Niitsu N: Deletion of the distal long arm of chromosome 1: an analytical approach may contribute to the diagnosis. Acta Paed. Jpn. 30:696-702, 1988. [PubMed: 3149131]Patient No. SCM-152369.46,XX,del(1)(pter -> q42.3:).Parental karyotypes were normal.Aberration: Terminal deletionChromosomal Aneuploidy: 1q-Negative band
- PubMedLinks to PubMed
- 01q423 - Chromosomal Variation in Man01q423 - Chromosomal Variation in Man
Your browsing activity is empty.
Activity recording is turned off.
See more...