Duplication of segment 1p21 following paternal insertional translocation, ins(6;1) (q25;p13.3p22.1)

Journal of Medical Genetics

Volumn 36, Issue 1, 1999, Pages 73-76

  Utkus, Algirdas ^a   Sorokina, Irina ^a   Kucinskas, Vaidutis ^a   Rothlisberger, Benno ^b   Balmer, Damina ^b   Brecevic, Lukrecija ^b   Schinzel, Albert ^b  

^a VILNIUS UNIVERSITY   (Lithuania)

^b UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Chromosome duplication 1p; Dual colour FISH; Unbalanced insertional translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 1P; CHROMOSOME DUPLICATION; CHROMOSOME INSERTION; CHROMOSOME TRANSLOCATION 6; CONGENITAL HEART MALFORMATION; EAR MALFORMATION; ECHOGRAPHY; EXOPHTHALMOS; FACE MALFORMATION; HIGH ARCHED PALATE; HUMAN; HUMAN CELL; INFANT; MALE; MENTAL DEFICIENCY; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; TOE MALFORMATION; UMBILICAL HERNIA;

ABNORMALITIES, MULTIPLE; AGE DETERMINATION BY SKELETON; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 6; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MICROSATELLITE REPEATS; TRANSLOCATION, GENETIC;

CHORDA;

EID: 0032933126     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Schürmann M, Wethling H, Niemeyer ML, Schwinger E. Familiäre Chromosomentranslokation (1;5;15) als Ursache einer partiellen Trisomie 1p. Klin Paediatr 1987;199:27-31.
2. Hoechstetter L, Soukup S, Schorry EK. Familial partial duplication (1)(p21p31).Am J Med Genet 1995;59:291-4.
3. Arnoldus EPJ, wiegant J, Noordermeer IA, et al. Detection of the Philadelphia chromosome in interphase nuclei. Cytogenet Cell Genet 1990;54:108-11.
4. Dhellemmes C, Choiset A, Narbouton R, et al Interstitial dup(1p) and severe imrauterine growth retardation. Ann Genet 1988;31:129-31.
5. Mohammed FMA, Farag TI, Gunawardana SS, et al. Direct duplication of chromosome 1, dir dup(1)(p21,2→,p32), in a Bedouin boy with multiple congenital anomalies. Am J Med Genet 1989;32:353-5.
6. Zaslav AL, Blumenthal D, Fox JE, Thomson KA, Segraves K, Weinstein ME. A rare inherited euchromatic heteromorphism on chromosome 1. Prenat Diagn 1993;13:569-73.