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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- Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]t(19;22)(p13;q12).Aberration: Reciprocal translocationNegative band
- Cario H, Bode H, Gustavsson P, dahl N, Kohne E.: A microdeletion syndrome due to a 3-Mb deletion on 19q13.2-Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation. Clin. Genet. 55:487-492, 1999. [PubMed: 10450869]
Gustavsson P, Garelli E, Draptchinskaia N, Ball S, Willig T-N, Tentler D, Dianzani I, Punnett H H, Shafer F E, Cario H, Ramenghi U, Glomstein A, Pfeiffer R A, Goringe A, Olivieri N F, Smibert E, Tchernia G, Elinder G, Dahl N.: Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. AJHG 63:1388-1395, 1998. [PMC free article: PMC1377548] [PubMed: 9792865]
Gustavsson P, Skeppner G, Johansson B, Berg T, Gordon L, Kreuger A, Dahl N.: Diamond-Blackfan anemia in a girl with a de novo balanced reciprocal X;19 translocation. J. Med. Genet. 34:779-782, 1997. [PMC free article: PMC1051068] [PubMed: 9321770]
Gustavsson P, Willig T-N, van Haeringen A, Tchernia G, Dianzani I, Donner M, Elinder G, Henter J-I, Nilsson P-G, Gordon L, Skeppner G, van''t Veer-Korthof L, Kreuger A, Dahl N.: Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb. Nature Genet. 16:368-371, 1997. [PubMed: 9241274]46,X,t(X;19)(p21;q13).ish t(X;19)(9476;8764+)de novoThe patient was 7 years old with congenital hypoplastic anemia.The patient presented by Cario and colleagues is MH, referred at 13 months of age:46,XY,del(19)(q13.2)Aberration: RT,IDMIM#: 205900Chromosomal Aneuploidy: 19q-Index Terms: Diamond-Blackfan anaemiaNo band - Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points in structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]M. R. C. Registry No. K175-17-67 in this report.46,XY,t(19;22)(q13;q13).Aberration: Simple translocationNegative band
- Lange M, Alfi O S: Trisomy 19q. Ann. Genet. 19:17-21, 1976. [PubMed: 1084117]46,XX,t(19;22)(q13;p13).,46,XX,t(19;22)(19pter->19q13::22p13->22pter;,22qter->22p13::19q13->19qter).,46,XX,der(19)der(22)t(19;22)(q13;p13)mat.Patient D.A.P. in this report.46,XX,-22,+der(22)t(19;22)(q13;p13)mat.&Common features in the two sibs included flat facial profile with microcephaly, hypertelorism, ptosis, prominence of the glabella, small nose with anteverted nostrils, a characteristic fish-shaped mouth, congenital heart disease, physical retardation and seizures.Patient D.P. in this report.46,XY,-22,+der(22)t(19;22)(q13;p13)mat.Aberration: Reciprocal translocationIndex Terms: Congenital heart defects (cardiovascular anomalies),Face ... broad, round flat,Glabella ... prominent,Hypertelorism,Microcephaly,Mouth ... carp-fish-shaped,Ptosis,SeizuresNegative band
- Matsuda T, Nonomura M, Okada K, Hayashi K, Yoshida O: Cytogenetic survey of subfertile males in Japan. Urol. Internat. 44:194-197, 1989. [PubMed: 2800053]
Matsuda T, Nonomura M, Yamamoto S, Hayashi K, Yoshida O: Sperm morphology in subfertile carriers of autosomal translocations. Int. J. Fertil. 36:178-182, 1991. [PubMed: 1678374]Male with normozoospermia was studied.Patient No. 7.46,XY,t(19;22)(q13;q12).Patient was 32 years old.Aberration: Reciprocal translocationIndex Terms: NormozoospermiaNegative band - Shah H O, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation Nos. 1155 and 1156.46,XY,t(19;21)(q13;q22)mat.Aberration: Reciprocal translocationNegative band
- Same entry as in 07q220,16q130 (Warburton D, 1991).
- 19q130 - Chromosomal Variation in Man19q130 - Chromosomal Variation in Man
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