Supernumerary chromosome marker der(22)t(11;22) resulting from a maternal balanced translocation

Chang Gung Medical Journal

Volumn 26, Issue 1, 2003, Pages 48-52

  Hou, Jia Woei ^a  

^a CHANG GUNG CHILDREN S HOSPITAL   (Taiwan)

Author keywords

Der(22); Partial trisomy 11; Partial trisomy 22; Supernumerary marker; t(11; 22)

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 11Q; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME MARKER; CHROMOSOME TRANSLOCATION 11; CHROMOSOME TRANSLOCATION 22; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; HUMAN; KARYOTYPING; MALE; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPOTONIA; PARTIAL TRISOMY; PSYCHOMOTOR RETARDATION; SKIN DEFECT; SUPERNUMERARY CHROMOSOME; UROGENITAL TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 22; HUMANS; MALE; TRANSLOCATION, GENETIC; TRISOMY;

EID: 0037230472     PISSN: 02558270     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Iselius L, Lindsten J, Aurias A, Fraccaro M, Bastard C, Bottelli AM, Bui TH, Caufin D, Dalpra L, Delendi N. The 11q:22q translocation: a collaborative study of 20 new cases and analysis of 110 families. Hum Genet 1983;64:343-55.
2. Gardner RJH, Sutherland GR. Chromosome Abnormalities and Genetic Counseling. Oxford: Oxford University Press, 1996:29-46.
3. Donnenfeld AE, Zackai EH, Emanuel BS. Chromosome 22, supernumerary der 22, t(11:22). In: Buyse ML (Ed.). Birth Defects Encyclopedia. Cambridge: Blackwell 1990:394-5.
4. Simi P, Ceccarelli M, Baracchini A, Floriani G, Zuffardi O. The unbalanced offspring of the male carriers of the 11q;22q translocation: non-disjunction at meiosis II in a balanced spermatocyte. Hum Genet 1996;88:482-3.
5. Fraccaro M, Lindsten J, Ford CE, Iselius L. The 11q:22q translocation: a European collaborative analysis of 43 cases. Hum Genet 1980:56:21-51.
6. Hou JW, Liu CH, Wang TR. Molecular cytogenetic studies of children with marker chromosomes. J Formos Med Asscc 1994;93:205-9.
7. Rickard S, Boxer M, Trompeter R, Bitner-Glindzicz M. Importance of clinical evaluation and molecular testing in branchio-oto-renal (BOR) syndrome and overlapping phenotypes. J Mol Genet 2000;37:623-7.
8. Tapia-Paez I, Kost-Alimova M, Hu P, BoeBA, Blennow E, Fedorova L, Imreh S, Dumanski JP. The position of t(11;22)(q23:q11) constitutional translocation breakpoint is conserved among its carriers. Hum Genet 2001;109:167-77.
9. Kurahashi H, Shaikh TH, Zackai EH, Celle L, Discoll DA, Budarf ML, Emanuel BS. Tightly clustered 11q23 and 22q11 breakpoint permit PCR-based detection of the recurrence constitutional t(11;22). Am J Hum Genet 2000; 67:763-8.
10. Lindblom A, Sandelin K, Iselius L, Dumanski J, White I, Nordenskjold M, Larsson C. Predisposition for breast cancer in carriers of constitutional translocation 11q;22q. Am J Hum Genet 1994;54:871-6.